Swiss Institute of Bioinformatics

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1606 publications

 
Indigenous peoples in eastern Brazil: insights from 19<sup>th</sup> century genomes and metagenomes
Cruz Dávalos Diana Ivette, Arizmendi Cárdenas Yami Ommar, Bravo-Lopez Miriam Jetzabel, Neuenschwander Samuel, Reis Silvia, Bastos Murilo Q. R., Stenderup Jesper, Yediay Fulya Eylem, Villa-Islas Viridiana, Reyna-Blanco Carlos S. et al..
 
Recension de HAKOLA, Raimo, ORPANA, Jessi et HUOTARI, Paavo (éds.), Scriptures in the Making (Peeters, 2022)
Clivaz Claire Apocrypha, 34 (2023). Peer-reviewed.
 
Functional hypoxia reduces mitochondrial calcium uptake.
Donnelly C., Komlódi T., Cecatto C., Cardoso LHD, Compagnion A.C., Matera A., Tavernari D., Campiche O., Paolicelli R.C., Zanou N. et al. Redox biology. Peer-reviewed.
 
Investigating the Evolution of Drosophila STING-dependent Antiviral Innate Immunity by Multispecies Comparison of 2'3'-cGAMP Responses.
Hédelin L., Thiébaut A., Huang J., Li X., Lemoine A., Haas G., Meignin C., Cai H., Waterhouse R.M., Martins N. et al. Molecular biology and evolution. Peer-reviewed.
 
The Junia Case, Once Again. A Response to Esther Yue L. Ng, “Was Junia(s) in Rom 16:7 a Female Apostle? And so What?” (JETS 63/3 [2020]: 517-533)
Marschall Priscille Journal of the European Society of Women in Theological Research, 32. Peer-reviewed.
 
Quality assessment of gene repertoire annotations with OMArk.
Nevers Y., Warwick Vesztrocy A., Rossier V., Train C.M., Altenhoff A., Dessimoz C., Glover N.M. Nature biotechnology. Peer-reviewed.
 
Cis-regulatory effect of HPV integration is constrained by host chromatin architecture in cervical cancers.
Singh A.K., Walavalkar K., Tavernari D., Ciriello G., Notani D., Sabarinathan R. Molecular oncology. Peer-reviewed.
 
Exploring the conformational changes of the Munc18-1/syntaxin 1a complex.
Stefani I., Iwaszkiewicz J., Fasshauer D. Protein science. Peer-reviewed.
 
IL-10-expressing CAR T cells resist dysfunction and mediate durable clearance of solid tumors and metastases.
Zhao Y., Chen J., Andreatta M., Feng B., Xie Y.Q., Wenes M., Wang Y., Gao M., Hu X., Romero P. et al. Nature biotechnology. Peer-reviewed.
 
An omics-based machine learning approach to predict diabetes progression: a RHAPSODY study.
Slieker R.C., Münch M., Donnelly L.A., Bouland G.A., Dragan I., Kuznetsov D., Elders PJM, Rutter G.A., Ibberson M., Pearson E.R. et al., 2024/05. Diabetologia, 67 (5) pp. 885-894. Peer-reviewed.
 
Assessing the impact of post-mortem damage and contamination on imputation performance in ancient DNA.
Garrido Marques A., Rubinacci S., Malaspinas A.S., Delaneau O., Sousa da Mota B., 2024/03/14. Scientific reports, 14 (1) p. 6227. Peer-reviewed.
 
AI and the democratization of knowledge.
Dessimoz C., Thomas P.D., 2024/03/05. Scientific data, 11 (1) p. 268. Peer-reviewed.
Scalable, accessible and reproducible reference genome assembly and evaluation in Galaxy.
Larivière D., Abueg L., Brajuka N., Gallardo-Alba C., Grüning B., Ko B.J., Ostrovsky A., Palmada-Flores M., Pickett B.D., Rabbani K. et al., 2024/03. Nature biotechnology, 42 (3) pp. 367-370. Peer-reviewed.
DNA methylation may partly explain psychotropic drug-induced metabolic side effects: results from a prospective 1-month observational study.
Dubath C., Porcu E., Delacrétaz A., Grosu C., Laaboub N., Piras M., von Gunten A., Conus P., Plessen K.J., Kutalik Z. et al., 2024/02/28. Clinical epigenetics, 16 (1) p. 36. Peer-reviewed.
Pseudocryptic diversity and species boundaries in the sea cucumber Stichopus cf. horrens (Echinodermata: Stichopodidae) revealed by mitochondrial and microsatellite markers.
Lizano AMD, Kim K.M., Juinio-Meñez M.A., Ravago-Gotanco R., 2024/02/28. Scientific reports, 14 (1) p. 4886. Peer-reviewed.
An approach for integrating multimodal omics data into sparse and interpretable models.
Dong Y., Gottardo R., 2024/02/26. Cell reports methods, 4 (2) p. 100718. Peer-reviewed.
 
A Federated Database for Obesity Research: An IMI-SOPHIA Study.
Delfin C., Dragan I., Kuznetsov D., Tajes J.F., Smit F., Coral D.E., Farzaneh A., Haugg A., Hungele A., Niknejad A. et al., 2024/02/16. Life, 14 (2). Peer-reviewed.
 
PheWAS-based clustering of Mendelian Randomisation instruments reveals distinct mechanism-specific causal effects between obesity and educational attainment.
Darrous L., Hemani G., Davey Smith G., Kutalik Z., 2024/02/15. Nature communications, 15 (1) p. 1420. Peer-reviewed.
Signaling via a CD27-TRAF2-SHP-1 axis during naive T cell activation promotes memory-associated gene regulatory networks.
Jaeger-Ruckstuhl C.A., Lo Y., Fulton E., Waltner O.G., Shabaneh T.B., Simon S., Muthuraman P.V., Correnti C.E., Newsom O.J., Engstrom I.A. et al., 2024/02/13. Immunity, 57 (2) pp. 287-302.e12. Peer-reviewed.
 
Evolution of chemosensory tissues and cells across ecologically diverse Drosophilids.
Bontonou G., Saint-Leandre B., Kafle T., Baticle T., Hassan A., Sánchez-Alcañiz J.A., Arguello J.R., 2024/02/05. Nature communications, 15 (1) p. 1047. Peer-reviewed.
A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy.
Chong A.Y., Brenner N., Jimenez-Kaufmann A., Cortes A., Hill M., Littlejohns T.J., Gilchrist J.J., Fairfax B.P., Knight J.C., Hodel F. et al., 2024/02/01. American journal of human genetics, 111 (2) pp. 295-308. Peer-reviewed.
 
Causality-enriched epigenetic age uncouples damage and adaptation.
Ying K., Liu H., Tarkhov A.E., Sadler M.C., Lu A.T., Moqri M., Horvath S., Kutalik Z., Shen X., Gladyshev V.N., 2024/02. Nature aging, 4 (2) pp. 231-246. Peer-reviewed.
 
Correction to: Disrupted hypothalamic transcriptomics and proteomics in a mouse model of type 2 diabetes exposed to recurrent hypoglycaemia.
Castillo-Armengol J., Marzetta F., Sanchez-Archidona A.R., Fledelius C., Evans M., McNeilly A., McCrimmon R.J., Ibberson M., Thorens B., 2024/02. Diabetologia, 67 (2) p. 403. Peer-reviewed.
 
Disrupted hypothalamic transcriptomics and proteomics in a mouse model of type 2 diabetes exposed to recurrent hypoglycaemia.
Castillo-Armengol J., Marzetta F., Rodriguez Sanchez-Archidona A., Fledelius C., Evans M., McNeilly A., McCrimmon R.J., Ibberson M., Thorens B., 2024/02. Diabetologia, 67 (2) pp. 371-391. Peer-reviewed.
 
Pan-genome analysis highlights the role of structural variation in the evolution and environmental adaptation of Asian honeybees.
Li Y., Yao J., Sang H., Wang Q., Su L., Zhao X., Xia Z., Wang F., Wang K., Lou D. et al., 2024/02. Molecular ecology resources, 24 (2) pp. e13905. Peer-reviewed.
 
Semi-supervised integration of single-cell transcriptomics data.
Andreatta M., Hérault L., Gueguen P., Gfeller D., Berenstein A.J., Carmona S.J., 2024/01/29. Nature communications, 15 (1) p. 872. Peer-reviewed.
 
17q Gain in Neuroblastoma: A Review of Clinical and Biological Implications.
Mlakar V., Dupanloup I., Gonzales F., Papangelopoulou D., Ansari M., Gumy-Pause F., 2024/01/12. Cancers, 16 (2) p. 338. Peer-reviewed.
 
The genomic architecture of continuous plumage colour variation in the European barn owl (Tyto alba).
Cumer T., Machado A.P., San-Jose L.M., Ducrest A.L., Simon C., Roulin A., Goudet J., 2024/01/10. Proceedings. Biological sciences, 291 (2014) p. 20231995. Peer-reviewed.
 
Rare copy-number variants as modulators of common disease susceptibility.
Auwerx C., Jõeloo M., Sadler M.C., Tesio N., Ojavee S., Clark C.J., Mägi R., Estonian Biobank Research Team, Reymond A., Kutalik Z., 2024/01/08. Genome medicine, 16 (1) p. 5. Peer-reviewed.
 
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D., Talouarn E., Marchal A., Zhang P., Manry J., Seeleuthner Y., Zhang Y., Bolze A., Chaldebas M., Milisavljevic B. et al., 2024/01/06. Genome medicine, 16 (1) p. 6. Peer-reviewed.
 
ELM-the Eukaryotic Linear Motif resource-2024 update.
Kumar M., Michael S., Alvarado-Valverde J., Zeke A., Lazar T., Glavina J., Nagy-Kanta E., Donagh J.M., Kalman Z.E., Pascarelli S. et al., 2024/01/05. Nucleic acids research, 52 (D1) pp. D442-D455. Peer-reviewed.
 
OMA orthology in 2024: improved prokaryote coverage, ancestral and extant GO enrichment, a revamped synteny viewer and more in the OMA Ecosystem.
Altenhoff A.M., Warwick Vesztrocy A., Bernard C., Train C.M., Nicheperovich A., Prieto Baños S., Julca I., Moi D., Nevers Y., Majidian S. et al., 2024/01/05. Nucleic acids research, 52 (D1) pp. D513-D521. Peer-reviewed.
 
The SIB Swiss Institute of Bioinformatics Semantic Web of data.
SIB Swiss Institute of Bioinformatics RDF Group Members, Mendes de Farias T., 2024/01/05. Nucleic acids research, 52 (D1) pp. D44-D51. Peer-reviewed.
 
CellCharter reveals spatial cell niches associated with tissue remodeling and cell plasticity.
Varrone M., Tavernari D., Santamaria-Martínez A., Walsh L.A., Ciriello G., 2024/01. Nature genetics, 56 (1) pp. 74-84. Peer-reviewed.
 
Characterization of the diversity of barn owl's mitochondrial genome reveals high copy number variations in the control region.
Serrano M.J., Goudet J., Cumer T., 2024. PloS one, 19 (1) pp. e0295595. Peer-reviewed.
 
Exploring the role of purinergic receptor P2RY1 in type 2 diabetes risk and pathophysiology: Insights from human functional genomics.
Dance A., Fernandes J., Toussaint B., Vaillant E., Boutry R., Baron M., Loiselle H., Balkau B., Charpentier G., Franc S. et al., 2024/01. Molecular metabolism, 79 p. 101867. Peer-reviewed.
 
Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree.
Dylus D., Altenhoff A., Majidian S., Sedlazeck F.J., Dessimoz C., 2024/01. Nature biotechnology, 42 (1) pp. 139-147. Peer-reviewed.
 
Two-Step Covalent Docking with Attracting Cavities.
Goullieux M., Zoete V., Röhrig U.F., 2023/12/25. Journal of chemical information and modeling, 63 (24) pp. 7847-7859. Peer-reviewed.
 
Multimodal learning in clinical proteomics: enhancing antimicrobial resistance prediction models with chemical information.
Visonà G., Duroux D., Miranda L., Sükei E., Li Y., Borgwardt K., Oliver C., 2023/12/01. Bioinformatics, 39 (12) pp. btad717. Peer-reviewed.
Sex and Age Impact CD4+ T Cell Susceptibility to HIV In Vitro through Cell Activation Dynamics.
Brandt L., Angelino P., Martinez R., Cristinelli S., Ciuffi A., 2023/11/23. Cells, 12 (23) p. 2689. Peer-reviewed.
Emergence and fate of stem cell-like Tcf7<sup>+</sup> CD8<sup>+</sup> T cells during a primary immune response to viral infection.
Silva J.G., Pais Ferreira D., Dumez A., Wyss T., Veber R., Danilo M., Pinschewer D.D., Charmoy M., Held W., 2023/11/17. Science immunology, 8 (89) pp. eadh3113. Peer-reviewed.
 
SwissParam 2023: A Modern Web-Based Tool for Efficient Small Molecule Parametrization.
Bugnon M., Goullieux M., Röhrig U.F., Perez MAS, Daina A., Michielin O., Zoete V., 2023/11/13. Journal of chemical information and modeling, 63 (21) pp. 6469-6475. Peer-reviewed.
 
AlphaFold Blindness to Topological Barriers Affects Its Ability to Correctly Predict Proteins' Topology.
Dabrowski-Tumanski P., Stasiak A., 2023/11/07. Molecules, 28 (22) p. 7462. Peer-reviewed.
 
An allele-sharing, moment-based estimator of global, population-specific and population-pair FST under a general model of population structure.
Goudet J., Weir B.S., 2023/11. PLoS genetics, 19 (11) pp. e1010871. Peer-reviewed.
Clonal expansion of intra-epithelial T cells in breast cancer revealed by spatial transcriptomics.
Romanens L., Chaskar P., Marcone R., Ryser S., Tille J.C., Genolet R., Heimgartner-Hu K., Heimgartner K., Moore J.S., Liaudet N. et al., 2023/11/01. International journal of cancer, 153 (9) pp. 1568-1578. Peer-reviewed.
Lymph node dendritic cells harbor inducible replication-competent HIV despite years of suppressive ART.
Banga R., Procopio F.A., Lana E., Gladkov G.T., Roseto I., Parsons E.M., Lian X., Armani-Tourret M., Bellefroid M., Gao C. et al., 2023/10/11. Cell host & microbe, 31 (10) pp. 1714-1731.e9. Peer-reviewed.
Genomic variant benchmark: if you cannot measure it, you cannot improve it.
Majidian S., Agustinho D.P., Chin C.S., Sedlazeck F.J., Mahmoud M., 2023/10/05. Genome biology, 24 (1) p. 221. Peer-reviewed.
 
A phase 1 trial of adoptive transfer of vaccine-primed autologous circulating T cells in ovarian cancer.
Bobisse S., Bianchi V., Tanyi J.L., Sarivalasis A., Missiaglia E., Pétremand R., Benedetti F., Torigian D.A., Genolet R., Barras D. et al., 2023/10. Nature cancer, 4 (10) pp. 1410-1417. Peer-reviewed.
Activation of the transcription factor NFAT5 in the tumor microenvironment enforces CD8+ T cell exhaustion.
Tillé L., Cropp D., Charmoy M., Reichenbach P., Andreatta M., Wyss T., Bodley G., Crespo I., Nassiri S., Lourenco J. et al., 2023/10. Nature immunology, 24 (10) pp. 1645-1653. Peer-reviewed.
G2GSnake: a Snakemake workflow for host-pathogen genomic association studies.
Xu Z.M., Naret O., Oumelloul M.A., Fellay J., 2023/10. Bioinformatics advances, 3 (1) pp. vbad142. Peer-reviewed.
Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.
Gentien D., Saberi-Ansari E., Servant N., Jolly A., de la Grange P., Némati F., Liot G., Saule S., Teissandier A., Bourc'his D. et al., 2023/09/26. Cell reports, 42 (9) p. 113132. Peer-reviewed.
Genetic insights into the age-specific biological mechanisms governing human ovarian aging.
Ojavee S.E., Darrous L., Patxot M., Läll K., Fischer K., Mägi R., Kutalik Z., Robinson M.R., 2023/09/07. American journal of human genetics, 110 (9) pp. 1549-1563. Peer-reviewed.
Application of clinical and molecular profiling data to improve patient outcomes in psoriatic arthritis.
FitzGerald O., Behrens F., Barton A., Bertheussen H., Boutouyrie-Dumont B., Coates L., Davies O., de Wit M., Fagni F., Goodyear C.S. et al., 2023/09. Therapeutic advances in musculoskeletal disease, 15. Peer-reviewed.
 
Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load.
McLaren P.J., Porreca I., Iaconis G., Mok H.P., Mukhopadhyay S., Karakoc E., Cristinelli S., Pomilla C., Bartha I., Thorball C.W. et al., 2023/09. Nature, 621 (7979) pp. E42. Peer-reviewed.
Genome-wide Association Studies of Retinal Vessel Tortuosity Identify Numerous Novel Loci Revealing Genes and Pathways Associated With Ocular and Cardiometabolic Diseases.
Tomasoni M., Beyeler M.J., Vela S.O., Mounier N., Porcu E., Corre T., Krefl D., Button A.L., Abouzeid H., Konstantinidis Lazaros et al., 2023/09. Ophthalmology science, 3 (3) p. 100288. Peer-reviewed.
 
Minimum information guidelines for experiments structurally characterizing intrinsically disordered protein regions.
Mészáros B., Hatos A., Palopoli N., Quaglia F., Salladini E., Van Roey K., Arthanari H., Dosztányi Z., Felli I.C., Fischer P.D. et al., 2023/09. Nature methods, 20 (9) pp. 1291-1303. Peer-reviewed.
 
Rapid and strain-specific resistance evolution of Staphylococcus aureus against inhibitory molecules secreted by Pseudomonas aeruginosa.
Niggli S., Schwyter L., Poveda L., Grossmann J., Kümmerli R., 2023/08/30. mBio, 14 (5) pp. e0315322. Peer-reviewed.
On the Potential of Artificial Intelligence Chatbots for Data Exploration of Federated Bioinformatics Knowledge Graphs
Sima Ana-Claudia, Mendes de Farias Tarcisio, 2023/08/29. dans SeWebMeDa’23: 6th Workshop on Semantic Web solutions for large-scale biomedical data analytics, CEUR Workshop Proceedings (CEUR-WS.org).
Lessons learned to boost a bioinformatics knowledge base reusability, the Bgee experience.
Mendes de Farias T., Wollbrett J., Robinson-Rechavi M., Bastian F., 2023/08/17. GigaScience, 12 pp. giad058. Peer-reviewed.
Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.
Hanssen R., Auwerx C., Jõeloo M., Sadler M.C., Estonian Biobank Research Team, Henning E., Keogh J., Bounds R., Smith M., Firth H.V. et al., 2023/08/15. Cell reports. Medicine, 4 (8) p. 101155. Peer-reviewed.
Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants.
Cobat A., Zhang Q., COVID Human Genetic Effort, Abel L., Casanova J.L., Fellay J., 2023/08/10. Annual review of biomedical data science, 6 pp. 465-486. Peer-reviewed.
 
CXCL9:SPP1 macrophage polarity identifies a network of cellular programs that control human cancers.
Bill R., Wirapati P., Messemaker M., Roh W., Zitti B., Duval F., Kiss M., Park J.C., Saal T.M., Hoelzl J. et al., 2023/08/04. Science, 381 (6657) pp. 515-524. Peer-reviewed.
 
Genetic insights into resting heart rate and its role in cardiovascular disease.
van de Vegte Y.J., Eppinga R.N., van der Ende M.Y., Hagemeijer Y.P., Mahendran Y., Salfati E., Smith A.V., Tan V.Y., Arking D.E., Ntalla I. et al., 2023/08/02. Nature communications, 14 (1) p. 4646. Peer-reviewed.
 
Africa-specific human genetic variation near CHD1L associates with HIV-1 load.
McLaren P.J., Porreca I., Iaconis G., Mok H.P., Mukhopadhyay S., Karakoc E., Cristinelli S., Pomilla C., Bartha I., Thorball C.W. et al., 2023/08. Nature, 620 (7976) pp. 1025-1030. Peer-reviewed.
BALDR: A Web-based platform for informed comparison and prioritization of biomarker candidates for type 2 diabetes mellitus.
Lundgaard A.T., Burdet F., Siggaard T., Westergaard D., Vagiaki D., Cantwell L., Röder T., Vistisen D., Sparsø T., Giordano G.N. et al., 2023/08. PLoS computational biology, 19 (8) pp. e1011403. Peer-reviewed.
 
MAGI1 Prevents Senescence and Promotes the DNA Damage Response in ER+ Breast Cancer.
Wörthmüller J., Disler S., Pradervand S., Richard F., Haerri L., Ruiz Buendía G.A., Fournier N., Desmedt C., Rüegg C., 2023/07/25. Cells, 12 (15) p. 1929. Peer-reviewed.
Obesity-associated changes in molecular biology of primary breast cancer.
Nguyen H.L., Geukens T., Maetens M., Aparicio S., Bassez A., Borg A., Brock J., Broeks A., Caldas C., Cardoso F. et al., 2023/07/21. Nature communications, 14 (1) p. 4418. Peer-reviewed.
Multi-layered genetic approaches to identify approved drug targets.
Sadler M.C., Auwerx C., Deelen P., Kutalik Z., 2023/07/12. Cell genomics, 3 (7) p. 100341. Peer-reviewed.
 
C/EBPα Confers Dependence to Fatty Acid Anabolic Pathways and Vulnerability to Lipid Oxidative Stress-Induced Ferroptosis in FLT3-Mutant Leukemia.
Sabatier M., Birsen R., Lauture L., Mouche S., Angelino P., Dehairs J., Goupille L., Boussaid I., Heiblig M., Boet E. et al., 2023/07/07. Cancer discovery, 13 (7) pp. 1720-1747. Peer-reviewed.
 
Response to Bassett et al.
Zamariolli M., Auwerx C., Sadler M.C., van der Graaf A., Lepik K., Schoeler T., Moysés-Oliveira M., Dantas A.G., Melaragno M.I., Kutalik Z., 2023/07/06. American journal of human genetics, 110 (7) pp. 1219-1220. Peer-reviewed.
 
FuzPred: a web server for the sequence-based prediction of the context-dependent binding modes of proteins.
Hatos A., Teixeira JMC, Barrera-Vilarmau S., Horvath A., Tosatto SCE, Vendruscolo M., Fuxreiter M., 2023/07/05. Nucleic acids research, 51 (W1) pp. W198-W206. Peer-reviewed.
 
Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes.
Rubinacci S., Hofmeister R.J., Sousa da Mota B., Delaneau O., 2023/07. Nature genetics, 55 (7) pp. 1088-1090. Peer-reviewed.
Differentiation of IL-26+ TH17 intermediates into IL-17A producers via epithelial crosstalk in psoriasis.
Fries A., Saidoune F., Kuonen F., Dupanloup I., Fournier N., Guerra de Souza A.C., Haniffa M., Ma F., Gudjonsson J.E., Roesner L. et al., 2023/06/30. Nature communications, 14 (1) p. 3878. Peer-reviewed.
An information theoretic approach to detecting spatially varying genes.
Jones D.C., Danaher P., Kim Y., Beechem J.M., Gottardo R., Newell E.W., 2023/06/26. Cell reports methods, 3 (6) p. 100507. Peer-reviewed.
 
Attracting Cavities 2.0: Improving the Flexibility and Robustness for Small-Molecule Docking.
Röhrig U.F., Goullieux M., Bugnon M., Zoete V., 2023/06/26. Journal of chemical information and modeling, 63 (12) pp. 3925-3940. Peer-reviewed.
 
Protein S-acylation controls the subcellular localization and biological activity of PHYTOCHROME KINASE SUBSTRATE.
Lopez Vazquez A., Allenbach Petrolati L., Legris M., Dessimoz C., Lampugnani E.R., Glover N., Fankhauser C., 2023/06/26. The Plant cell, 35 (7) pp. 2635-2653. Peer-reviewed.
Data in use for Alzheimer disease study: combining gene expression, orthology, bioresource and disease datasets
Mendes de Farias Tarcisio, Kushida Tatsuya, Sima Ana-Claudia, Dessimoz Christophe, Chiba Hirokazu, Bastian Frédéric, Masuya Hiroshi, 2023/06/22. dans SWAT4HCLS 2023: The 14th International Conference on Semantic Web Applications and Tools for Health Care and Life Sciences.
 
Towards predicting essential proteins via federated SPARQL queries
Liakopoulos Petros, Banfalvi Borbala, Wang Xinyi, Majidian Sina, Mendes de Farias Tarcisio, Dessimoz Christophe, Sima Ana Claudia, 2023/06/22. dans SWAT4HCLS 2023: The 14th International Conference on Semantic Web Applications and Tools for Health Care and Life Sciences.
 
Imputation of ancient human genomes.
Sousa da Mota B., Rubinacci S., Cruz Dávalos D.I., G Amorim C.E., Sikora M., Johannsen N.N., Szmyt M.H., Włodarczak P., Szczepanek A., Przybyła M.M. et al., 2023/06/20. Nature communications, 14 (1) p. 3660. Peer-reviewed.
Machine learning predictions of MHC-II specificities reveal alternative binding mode of class II epitopes.
Racle J., Guillaume P., Schmidt J., Michaux J., Larabi A., Lau K., Perez MAS, Croce G., Genolet R., Coukos G. et al., 2023/06/13. Immunity, 56 (6) pp. 1359-1375.e13. Peer-reviewed.
Neoantigen-specific CD8 T cells with high structural avidity preferentially reside in and eliminate tumors.
Schmidt J., Chiffelle J., Perez MAS, Magnin M., Bobisse S., Arnaud M., Genolet R., Cesbron J., Barras D., Navarro Rodrigo B. et al., 2023/06/06. Nature communications, 14 (1) p. 3188. Peer-reviewed.
 
Multimodal single cell analysis infers widespread enhancer co-activity in a lymphoblastoid cell line.
Ziyani C., Delaneau O., Ribeiro D.M., 2023/05/26. Communications biology, 6 (1) p. 563. Peer-reviewed.
 
FAIR in action - a flexible framework to guide FAIRification.
Welter D., Juty N., Rocca-Serra P., Xu F., Henderson D., Gu W., Strubel J., Giessmann R.T., Emam I., Gadiya Y. et al., 2023/05/19. Scientific data, 10 (1) p. 291. Peer-reviewed.
 
The FAIR Cookbook - the essential resource for and by FAIR doers.
Rocca-Serra P., Gu W., Ioannidis V., Abbassi-Daloii T., Capella-Gutierrez S., Chandramouliswaran I., Splendiani A., Burdett T., Giessmann R.T., Henderson D. et al., 2023/05/19. Scientific data, 10 (1) p. 292. Peer-reviewed.
 
Phylogenetic profiling in eukaryotes comes of age.
Moi D., Dessimoz C., 2023/05/09. Proceedings of the National Academy of Sciences of the United States of America, 120 (19) pp. e2305013120. Peer-reviewed.
 
Secondary structure of the human mitochondrial genome affects formation of deletions.
Shamanskiy V., Mikhailova A.A., Tretiakov E.O., Ushakova K., Mikhailova A.G., Oreshkov S., Knorre D.A., Ree N., Overdevest J.B., Lukowski S.W. et al., 2023/05/08. BMC biology, 21 (1) p. 103. Peer-reviewed.
PascalX: a Python library for GWAS gene and pathway enrichment tests.
Krefl D., Brandulas Cammarata A., Bergmann S., 2023/05/04. Bioinformatics, 39 (5) pp. btad296. Peer-reviewed.
 
Identification of biomarkers for glycaemic deterioration in type 2 diabetes.
Slieker R.C., Donnelly L.A., Akalestou E., Lopez-Noriega L., Melhem R., Güneş A., Abou Azar F., Efanov A., Georgiadou E., Muniangi-Muhitu H. et al., 2023/05/03. Nature communications, 14 (1) p. 2533. Peer-reviewed.
 
Effect of reduced genomic representation on using runs of homozygosity for inbreeding characterization.
Lavanchy E., Goudet J., 2023/05. Molecular ecology resources, 23 (4) pp. 787-802. Peer-reviewed.
 
Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
Mathieson I., Day F.R., Barban N., Tropf F.C., Brazel D.M., eQTLGen Consortium, BIOS Consortium, Vaez A., van Zuydam N., Bitarello B.D. et al., 2023/05. Nature human behaviour, 7 (5) pp. 790-801. Peer-reviewed.
Partner choice, confounding and trait convergence all contribute to phenotypic partner similarity.
Sjaarda J., Kutalik Z., 2023/05. Nature human behaviour, 7 (5) pp. 776-789. Peer-reviewed.
Cancer vaccines based on whole-tumor lysate or neoepitopes with validated HLA binding outperform those with predicted HLA-binding affinity.
Fritah H., Graciotti M., Lai-Lai Chiang C., Huguenin-Bergenat A.L., Petremand R., Ahmed R., Guillaume P., Schmidt J., Stevenson B.J., Gfeller D. et al., 2023/04/21. iScience, 26 (4) p. 106288. Peer-reviewed.
Multiomics reveals multilevel control of renal and systemic metabolism by the renal tubular circadian clock.
Bignon Y., Wigger L., Ansermet C., Weger B.D., Lagarrigue S., Centeno G., Durussel F., Götz L., Ibberson M., Pradervand S. et al., 2023/04/17. The Journal of clinical investigation, 133 (8) pp. e167133. Peer-reviewed.
DNA Methylation Landscapes of Prostate Cancer Brain Metastasis Are Shaped by Early Driver Genetic Alterations.
Gallon J., Rodriguez-Calero A., Benjak A., Akhoundova D., Maletti S., Amstutz U., Hewer E., Genitsch V., Fleischmann A., Rushing E.J. et al., 2023/04/14. Cancer research, 83 (8) pp. 1203-1213. Peer-reviewed.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Mao K., Borel C., Ansar M., Jolly A., Makrythanasis P., Froehlich C., Iwaszkiewicz J., Wang B., Xu X., Li Q. et al., 2023/04/11. Nature communications, 14 (1) p. 2026. Peer-reviewed.
Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.
Kashani E., Schnidrig D., Gheinani A.H., Ninck M.S., Zens P., Maragkou T., Baumgartner U., Schucht P., Rätsch G., Rubin M.A. et al., 2023/04/06. Neuro-oncology, 25 (4) pp. 662-673. Peer-reviewed.
A novel integrative multi-omics approach to unravel the genetic determinants of rare diseases with application in sinusoidal obstruction syndrome.
Waespe N., Mlakar S.J., Dupanloup I., Rezgui M.A., Bittencourt H., Krajinovic M., Kuehni C.E., Nava T., Ansari M., 2023/04. PloS one, 18 (4) pp. e0281892. Peer-reviewed.
Back-to-Africa introductions of Mycobacterium tuberculosis as the main cause of tuberculosis in Dar es Salaam, Tanzania.
Zwyer M., Rutaihwa L.K., Windels E., Hella J., Menardo F., Sasamalo M., Sommer G., Schmülling L., Borrell S., Reinhard M. et al., 2023/04. PLoS pathogens, 19 (4) pp. e1010893. Peer-reviewed.
Genomic analysis of two phlebotomine sand fly vectors of Leishmania from the New and Old World.
Labbé F., Abdeladhim M., Abrudan J., Araki A.S., Araujo R.N., Arensburger P., Benoit J.B., Brazil R.P., Bruno R.V., Bueno da Silva Rivas G. et al., 2023/04. PLoS neglected tropical diseases, 17 (4) pp. e0010862. Peer-reviewed.
Genetic insights into the causal relationship between physical activity and cognitive functioning.
Cheval B., Darrous L., Choi K.W., Klimentidis Y.C., Raichlen D.A., Alexander G.E., Cullati S., Kutalik Z., Boisgontier M.P., 2023/03/31. Scientific reports, 13 (1) p. 5310. Peer-reviewed.
Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene.
Tofilo M., Voronova N., Nigmatullina L., Kuznetsova E., Timonina V., Efimenko B., Turgunkhujaev O., Avdeichik S., Ansar M., Popadin K. et al., 2023/03/15. Genes, 14 (3) p. 720. Peer-reviewed.
 
Assessment of fungal spores and spore-like diversity in environmental samples by targeted lysis.
Corona Ramirez A., Bregnard D., Junier T., Cailleau G., Dorador C., Bindschedler S., Junier P., 2023/03/14. BMC microbiology, 23 (1) p. 68. Peer-reviewed.
Endothelial cell-derived oxysterol ablation attenuates experimental autoimmune encephalomyelitis.
Ruiz F., Peter B., Rebeaud J., Vigne S., Bressoud V., Roumain M., Wyss T., Yersin Y., Wagner I., Kreutzfeldt M. et al., 2023/03/06. EMBO reports, 24 (3) pp. e55328. Peer-reviewed.
 
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut M., Cortes M., Makrythanasis P., Suri M., Taylor AMR, Sullivan J.A., Asleh A.N., Mitra J., Dar M.A., McNamara A. et al., 2023/03/02. American journal of human genetics, 110 (3) pp. 499-515. Peer-reviewed.
Mycobacterium abscessus resists the innate cellular response by surviving cell lysis of infected phagocytes.
Touré H., Galindo L.A., Lagune M., Glatigny S., Waterhouse R.M., Guénal I., Herrmann J.L., Girard-Misguich F., Szuplewski S., 2023/03. PLoS pathogens, 19 (3) pp. e1011257. Peer-reviewed.
Systemic Inflammation Causes Microglial Dysfunction With a Vascular AD phenotype.
Bathini P., Dupanloup I., Zenaro E., Terrabuio E., Fischer A., Ballabani E., Doucey M.A., Alberi L., 2023/03. Brain, behavior, & immunity - health, 28 p. 100568. Peer-reviewed.
Whole-genome doubling drives oncogenic loss of chromatin segregation.
Lambuta R.A., Nanni L., Liu Y., Diaz-Miyar J., Iyer A., Tavernari D., Katanayeva N., Ciriello G., Oricchio E., 2023/03. Nature, 615 (7954) pp. 925-933. Peer-reviewed.
 
Mapache: a flexible pipeline to map ancient DNA.
Neuenschwander S., Cruz Dávalos D.I., Anchieri L., Sousa da Mota B., Bozzi D., Rubinacci S., Delaneau O., Rasmussen S., Malaspinas A.S., 2023/02/03. Bioinformatics, 39 (2) pp. btad028. Peer-reviewed.
An in vitro approach to understand contribution of kidney cells to human urinary extracellular vesicles.
Barreiro K., Lay A.C., Leparc G., Tran VDT, Rosler M., Dayalan L., Burdet F., Ibberson M., Coward RJM, Huber T.B. et al., 2023/02. Journal of extracellular vesicles, 12 (2) pp. e12304. Peer-reviewed.
Dendritic cells direct circadian anti-tumour immune responses.
Wang C., Barnoud C., Cenerenti M., Sun M., Caffa I., Kizil B., Bill R., Liu Y., Pick R., Garnier L. et al., 2023/02. Nature, 614 (7946) pp. 136-143. Peer-reviewed.
How genomics can help biodiversity conservation
Theissinger Kathrin, Fernandes Carlos, Formenti Giulio, Bista Iliana, Berg Paul R., Bleidorn Christoph, Bombarely Aureliano, Crottini Angelica, Gallo Guido R., Godoy José A. et al., 2023/02. Trends in Genetics. Peer-reviewed.
 
Swiss public health measures associated with reduced SARS-CoV-2 transmission using genome data.
Nadeau S.A., Vaughan T.G., Beckmann C., Topolsky I., Chen C., Hodcroft E., Schär T., Nissen I., Santacroce N., Burcklen E. et al., 2023/01/25. Science translational medicine, 15 (680) pp. eabn7979. Peer-reviewed.
Large scale phenotype imputation and in vivo functional validation implicate ADAMTS14 as an adiposity gene.
Kentistou K.A., Luan J., Wittemans LBL, Hambly C., Klaric L., Kutalik Z., Speakman J.R., Wareham N.J., Kendall T.J., Langenberg C. et al., 2023/01/19. Nature communications, 14 (1) p. 307. Peer-reviewed.
Improved predictions of antigen presentation and TCR recognition with MixMHCpred2.2 and PRIME2.0 reveal potent SARS-CoV-2 CD8(+ )T-cell epitopes.
Gfeller D., Schmidt J., Croce G., Guillaume P., Bobisse S., Genolet R., Queiroz L., Cesbron J., Racle J., Harari A., 2023/01/18. Cell systems, 14 (1) pp. 72-83.e5. Peer-reviewed.
Bispecific PD1-IL2v and anti-PD-L1 break tumor immunity resistance by enhancing stem-like tumor-reactive CD8<sup>+</sup> T cells and reprogramming macrophages.
Tichet M., Wullschleger S., Chryplewicz A., Fournier N., Marcone R., Kauzlaric A., Homicsko K., Deak L.C., Umaña P., Klein C. et al., 2023/01/10. Immunity, 56 (1) pp. 162-179.e6. Peer-reviewed.
 
Bringing science to the public in the light of evolution.
Blatter M.C., Zahn-Zabal M., Moix S., Pichon B., Dessimoz C., Glover N., 2023. Biology methods & protocols, 8 (1) pp. bpad040. Peer-reviewed.
CanIsoNet: a database to study the functional impact of isoform switching events in diseases.
Karakulak T., Szklarczyk D., Saylan C.C., Moch H., von Mering C., Kahraman A., 2023. Bioinformatics advances, 3 (1) pp. vbad050. Peer-reviewed.
 
DrosOMA: the Drosophila Orthologous Matrix browser.
Thiébaut A., Altenhoff A.M., Campli G., Glover N., Dessimoz C., Waterhouse R.M., 2023. F1000Research, 12 p. 936. Peer-reviewed.
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P., Bonilla X., Lamparter D., Shao W., Plessl T., Frei C., Bingisser A., Goetze S., van Drogen A., Harshman K. et al., 2023/01. Nature metabolism, 5 (1) pp. 80-95. Peer-reviewed.
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
Kanoni S., Graham S.E., Wang Y., Surakka I., Ramdas S., Zhu X., Clarke S.L., Bhatti K.F., Vedantam S., Winkler T.W. et al., 2022/12/27. Genome biology, 23 (1) p. 268. Peer-reviewed.
Estimated Costs of the Ipilimumab-Nivolumab Therapy and Related Adverse Events in Metastatic Melanoma.
Gautron Moura B., Gerard C.L., Testart N., Caikovski M., Wicky A., Aedo-Lopez V., Berthod G., Homicsko K., Prior J.O., Dromain C. et al., 2022/12/21. Cancers, 15 (1) p. 31. Peer-reviewed.
Discovery of synthetic lethal interactions from large-scale pan-cancer perturbation screens.
Srivatsa S., Montazeri H., Bianco G., Coto-Llerena M., Marinucci M., Ng CKY, Piscuoglio S., Beerenwinkel N., 2022/12/14. Nature communications, 13 (1) p. 7748. Peer-reviewed.
BET protein inhibition sensitizes glioblastoma cells to temozolomide treatment by attenuating MGMT expression.
Tancredi A., Gusyatiner O., Bady P., Buri M.C., Lomazzi R., Chiesi D., Messerer M., Hegi M.E., 2022/12/13. Cell death & disease, 13 (12) p. 1037. Peer-reviewed.
A differential process mining analysis of COVID-19 management for cancer patients.
Cuendet M.A., Gatta R., Wicky A., Gerard C.L., Dalla-Vale M., Tavazzi E., Michielin G., Delyon J., Ferahta N., Cesbron J. et al., 2022/12/07. Frontiers in oncology, 12 p. 1043675. Peer-reviewed.
c-MAF coordinates enterocyte zonation and nutrient uptake transcriptional programs.
González-Loyola A., Bernier-Latmani J., Roci I., Wyss T., Langer J., Durot S., Munoz O., Prat-Luri B., Delorenzi M., Lutolf M.P. et al., 2022/12/05. The Journal of experimental medicine, 219 (12) pp. e20212418. Peer-reviewed.
Calcium regulates acid-sensing ion channel 3 activation by competing with protons in the channel pore and at an allosteric binding site
Roy Sophie, Johner Niklaus, Trendafilov Viktor, Gautschi Ivan, Bignucolo Olivier, Molton Ophélie, Bernèche Simon, Kellenberger Stephan, 2022/12. Open Biology, 12 (12) p. 220243. Peer-reviewed.
Cryptosporulation in Kurthia spp. forces a rethinking of asporogenesis in Firmicutes.
Fatton M., Filippidou S., Junier T., Cailleau G., Berge M., Poppleton D., Blum T.B., Kaminek M., Odriozola A., Blom J. et al., 2022/12. Environmental microbiology, 24 (12) pp. 6320-6335. Peer-reviewed.
Epistasis and evolutionary dependencies in human cancers.
Mina M., Iyer A., Ciriello G., 2022/12. Current opinion in genetics & development, 77 p. 101989. Peer-reviewed.
Impact of cross-border-associated cases on the SARS-CoV-2 epidemic in Switzerland during summer 2020 and 2021.
Reichmuth M.L., Hodcroft E.B., Riou J., Neher R.A., Hens N., Althaus C.L., 2022/12. Epidemics, 41 p. 100654. Peer-reviewed.
Microbial invasion of a toxic medium is facilitated by a resident community but inhibited as the community co-evolves.
Piccardi P., Alberti G., Alexander J.M., Mitri S., 2022/12. The ISME journal, 16 (12) pp. 2644-2652. Peer-reviewed.
 
Pan-vaccine analysis reveals innate immune endotypes predictive of antibody responses to vaccination.
Fourati S., Tomalin L.E., Mulè M.P., Chawla D.G., Gerritsen B., Rychkov D., Henrich E., Miller HER, Hagan T., Diray-Arce J. et al., 2022/12. Nature immunology, 23 (12) pp. 1777-1787. Peer-reviewed.
 
Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries.
Mishra A., Malik R., Hachiya T., Jürgenson T., Namba S., Posner D.C., Kamanu F.K., Koido M., Le Grand Q., Shi M. et al., 2022/12. Nature, 612 (7938) pp. E7. Peer-reviewed.
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.
Taylor A.S., Barros D., Gobet N., Schuepbach T., McAllister B., Aeschbach L., Randall E.L., Trofimenko E., Heuchan E.R., Barszcz P. et al., 2022/12. NAR genomics and bioinformatics, 4 (4) pp. lqac089. Peer-reviewed.
Structure-based optimization of type III indoleamine 2,3-dioxygenase 1 (IDO1) inhibitors.
Röhrig U.F., Majjigapu S.R., Vogel P., Reynaud A., Pojer F., Dilek N., Reichenbach P., Ascenção K., Irving M., Coukos G. et al., 2022/12. Journal of enzyme inhibition and medicinal chemistry, 37 (1) pp. 1773-1811. Peer-reviewed.
 
The devil is in the details: an analysis of patient rights in Swiss cancer registries.
Martani A., Erard F., Casonato C., Elger B.S., 2022/12. Journal of medical ethics, 48 (12) pp. 1048-1053. Peer-reviewed.
 
Transcriptional atlas of the human immune response to 13 vaccines reveals a common predictor of vaccine-induced antibody responses.
Hagan T., Gerritsen B., Tomalin L.E., Fourati S., Mulè M.P., Chawla D.G., Rychkov D., Henrich E., Miller HER, Diray-Arce J. et al., 2022/12. Nature immunology, 23 (12) pp. 1788-1798. Peer-reviewed.
Using in vivo transcriptomics and RNA enrichment to identify genes involved in virulence of Candida glabrata.
Schrevens S., Durandau E., Tran VDT, Sanglard D., 2022/12. Virulence, 13 (1) pp. 1285-1303. Peer-reviewed.
X chromosomes show relaxed selection and complete somatic dosage compensation across Timema stick insect species.
Parker D.J., Jaron K.S., Dumas Z., Robinson-Rechavi M., Schwander T., 2022/12. Journal of evolutionary biology, 35 (12) pp. 1734-1750. Peer-reviewed.
3D-Beacons: decreasing the gap between protein sequences and structures through a federated network of protein structure data resources.
Varadi M., Nair S., Sillitoe I., Tauriello G., Anyango S., Bienert S., Borges C., Deshpande M., Green T., Hassabis D. et al., 2022/11/30. GigaScience, 11 pp. giac118. Peer-reviewed.
 
Bacterial Hsp90 predominantly buffers but does not potentiate the phenotypic effects of deleterious mutations during fluorescent protein evolution.
Iyengar B.R., Wagner A., 2022/11/30. Genetics, 222 (4) pp. iyac154. Peer-reviewed.
 
Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.
Franco M., Pickett S.J., Fleischmann Z., Khrapko M., Cote-L'Heureux A., Aidlen D., Stein D., Markuzon N., Popadin K., Braverman M. et al., 2022/11/28. Human molecular genetics, 31 (23) pp. 4075-4086. Peer-reviewed.
Calreticulin mutations affect its chaperone function and perturb the glycoproteome.
Schürch P.M., Malinovska L., Hleihil M., Losa M., Hofstetter M.C., Wildschut MHE, Lysenko V., Lakkaraju AKK, Maat C.A., Benke D. et al., 2022/11/22. Cell reports, 41 (8) p. 111689. Peer-reviewed.
 
A history of the MetaSUB consortium: Tracking urban microbes around the globe.
Ryon K.A., Tierney B.T., Frolova A., Kahles A., Desnues C., Ouzounis C., Gibas C., Bezdan D., Deng Y., He D. et al., 2022/11/18. iScience, 25 (11) p. 104993. Peer-reviewed.
 
Aberrant hyperexpression of the RNA binding protein FMRP in tumors mediates immune evasion.
Zeng Q., Saghafinia S., Chryplewicz A., Fournier N., Christe L., Xie Y.Q., Guillot J., Yucel S., Li P., Galván J.A. et al., 2022/11/18. Science, 378 (6621) pp. eabl7207. Peer-reviewed.
Parallel evolution of amphioxus and vertebrate small-scale gene duplications.
Brasó-Vives M., Marlétaz F., Echchiki A., Mantica F., Acemel R.D., Gómez-Skarmeta J.L., Hartasánchez D.A., Le Targa L., Pontarotti P., Tena J.J. et al., 2022/11/18. Genome biology, 23 (1) p. 243. Peer-reviewed.
 
Structure and functionality of a multimeric human COQ7:COQ9 complex.
Manicki M., Aydin H., Abriata L.A., Overmyer K.A., Guerra R.M., Coon J.J., Dal Peraro M., Frost A., Pagliarini D.J., 2022/11/17. Molecular cell, 82 (22) pp. 4307-4323.e10. Peer-reviewed.
 
Automatic Detection of Adverse Drug Events in Geriatric Care: Study Proposal.
Gaspar F., Lutters M., Beeler P.E., Lang P.O., Burnand B., Rinaldi F., Lovis C., Csajka C., Le Pogam M.A., SwissMADE study, 2022/11/15. JMIR research protocols, 11 (11) pp. e40456. Peer-reviewed.
Parent-of-Origin inference for biobanks.
Hofmeister R.J., Rubinacci S., Ribeiro D.M., Buil A., Kutalik Z., Delaneau O., 2022/11/05. Nature communications, 13 (1) p. 6668. Peer-reviewed.
Liability-scale heritability estimation for biobank studies of low-prevalence disease.
Ojavee S.E., Kutalik Z., Robinson M.R., 2022/11/03. American journal of human genetics, 109 (11) pp. 2009-2017. Peer-reviewed.
The Impact of Genetic Surfing on Neutral Genomic Diversity.
Schlichta F., Peischl S., Excoffier L., 2022/11/03. Molecular biology and evolution, 39 (11) pp. msac249. Peer-reviewed.
Adaptive evolvability through direct selection instead of indirect, second-order selection.
Wagner A., 2022/11. Journal of experimental zoology. Part B, Molecular and developmental evolution, 338 (7) pp. 395-404. Peer-reviewed.
Both APRIL and antibody-fragment-based CAR T cells for myeloma induce BCMA downmodulation by trogocytosis and internalization
Camviel Nicolas, Wolf Benita, Croce Giancarlo, Gfeller David, Zoete Vincent, Arber Caroline, 2022/11. Journal for ImmunoTherapy of Cancer, 10 (11) pp. e005091. Peer-reviewed.
Resistance to PI3Kδ inhibitors in marginal zone lymphoma can be reverted by targeting the IL-6/PDGFRA axis.
Arribas A.J., Napoli S., Cascione L., Sartori G., Barnabei L., Gaudio E., Tarantelli C., Mensah A.A., Spriano F., Zucchetto A. et al., 2022/11/01. Haematologica, 107 (11) pp. 2685-2697. Peer-reviewed.
 
Single-molecule real-time sequencing of the M protein: Toward personalized medicine in monoclonal gammopathies.
Cascino P., Nevone A., Piscitelli M., Scopelliti C., Girelli M., Mazzini G., Caminito S., Russo G., Milani P., Basset M. et al., 2022/11. American journal of hematology, 97 (11) pp. E389-E392. Peer-reviewed.
Stroke genetics informs drug discovery and risk prediction across ancestries.
Mishra A., Malik R., Hachiya T., Jürgenson T., Namba S., Posner D.C., Kamanu F.K., Koido M., Le Grand Q., Shi M. et al., 2022/11. Nature, 611 (7934) pp. 115-123. Peer-reviewed.
 
The combined impact of persistent infections and human genetic variation on C-reactive protein levels.
Hodel F., Naret O., Bonnet C., Brenner N., Bender N., Waterboer T., Marques-Vidal P., Vollenweider P., Fellay J., 2022/11/01. BMC medicine, 20 (1) p. 416. Peer-reviewed.
 
Classifying Interactions in a Synthetic Bacterial Community Is Hindered by Inhibitory Growth Medium.
Dos Santos A.R., Di Martino R., Testa SEA, Mitri S., 2022/10/26. mSystems, 7 (5) pp. e0023922. Peer-reviewed.
Multispectral fluorine-19 MRI enables longitudinal and noninvasive monitoring of tumor-associated macrophages.
Croci D., Santalla Méndez R., Temme S., Soukup K., Fournier N., Zomer A., Colotti R., Wischnewski V., Flögel U., van Heeswijk R.B. et al., 2022/10/19. Science translational medicine, 14 (667) pp. eabo2952. Peer-reviewed.
RWD-Cockpit: Application for Quality Assessment of Real-world Data.
Babrak L.M., Smakaj E., Agac T., Asprion P.M., Grimberg F., der Werf D.V., van Ginkel E.W., Tosoni D.D., Clay I., Degen M. et al., 2022/10/18. JMIR formative research, 6 (10) pp. e29920. Peer-reviewed.
A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand.
Mikhailova A.G., Mikhailova A.A., Ushakova K., Tretiakov E.O., Iliushchenko D., Shamansky V., Lobanova V., Kozenkov I., Efimenko B., Yurchenko A.A. et al., 2022/10/14. Nucleic acids research, 50 (18) pp. 10264-10277. Peer-reviewed.
 
Functional Testing to Characterize and Stratify PI3K Inhibitor Responses in Chronic Lymphocytic Leukemia.
Yin Y., Athanasiadis P., Karlsen L., Urban A., Xu H., Murali I., Fernandes S.M., Arribas A.J., Hilli A.K., Taskén K. et al., 2022/10/14. Clinical cancer research, 28 (20) pp. 4444-4455. Peer-reviewed.
A Linear Time Solution to the Labeled Robinson-Foulds Distance Problem.
Briand S., Dessimoz C., El-Mabrouk N., Nevers Y., 2022/10/12. Systematic biology, 71 (6) pp. 1391-1403. Peer-reviewed.
The effect of sequencing and assembly on the inference of horizontal gene transfer on chromosomal and plasmid phylogenies.
Huisman J.S., Vaughan T.G., Egli A., Tschudin-Sutter S., Stadler T., Bonhoeffer S., 2022/10/10. Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 377 (1861) p. 20210245. Peer-reviewed.
Environmental complexity is more important than mutation in driving the evolution of latent novel traits in E. coli.
Karve S., Wagner A., 2022/10/06. Nature communications, 13 (1) p. 5904. Peer-reviewed.
A saturated map of common genetic variants associated with human height.
Yengo L., Vedantam S., Marouli E., Sidorenko J., Bartell E., Sakaue S., Graff M., Eliasen A.U., Jiang Y., Raghavan S. et al., 2022/10. Nature, 610 (7933) pp. 704-712. Peer-reviewed.
Context-specific emergence and growth of the SARS-CoV-2 Delta variant.
McCrone J.T., Hill V., Bajaj S., Pena R.E., Lambert B.C., Inward R., Bhatt S., Volz E., Ruis C., Dellicour S. et al., 2022/10. Nature, 610 (7930) pp. 154-160. Peer-reviewed.
 
Immune-inflammatory proteome of elite ice hockey players before and after SARS-CoV-2 infection.
Maurer D.J., Barletta E., Heider A., Stocker N., Wallimann A., Villiger M., Villiger B., Bärenfaller K., Akdis C.A., Kistler W., 2022/10. Allergy, 77 (10) pp. 3144-3147. Peer-reviewed.
Physiological intron retaining transcripts in the cytoplasm abound during human motor neurogenesis.
Petrić Howe M., Crerar H., Neeves J., Harley J., Tyzack G.E., Klein P., Ramos A., Patani R., Luisier R., 2022/10. Genome research, 32 (10) pp. 1808-1825. Peer-reviewed.
 
Sex- and age-dependent genetics of longevity in a heterogeneous mouse population.
Bou Sleiman M., Roy S., Gao A.W., Sadler M.C., von Alvensleben GVG, Li H., Sen S., Harrison D.E., Nelson J.F., Strong R. et al., 2022/09/30. Science, 377 (6614) pp. eabo3191. Peer-reviewed.
Omics and Multi-Omics Analysis for the Early Identification and Improved Outcome of Patients with Psoriatic Arthritis.
Gurke R., Bendes A., Bowes J., Koehm M., Twyman R.M., Barton A., Elewaut D., Goodyear C., Hahnefeld L., Hillenbrand R. et al., 2022/09/24. Biomedicines, 10 (10) p. 2387. Peer-reviewed.
Tuning heterologous glucan biosynthesis in yeast to understand and exploit plant starch diversity.
Pfister B., Shields J.M., Kockmann T., Grossmann J., Abt M.R., Stadler M., Zeeman S.C., 2022/09/24. BMC biology, 20 (1) p. 207. Peer-reviewed.
Systematic assessment of pathway databases, based on a diverse collection of user-submitted experiments.
Gable A.L., Szklarczyk D., Lyon D., Matias Rodrigues J.F., von Mering C., 2022/09/20. Briefings in bioinformatics, 23 (5) pp. bbac355. Peer-reviewed.
Short-term paleogeographic reorganizations and climate events shaped diversification of North American freshwater gastropods over deep time.
Neubauer T.A., Harzhauser M., Hartman J.H., Silvestro D., Scotese C.R., Czaja A., Vermeij G.J., Wilke T., 2022/09/16. Scientific reports, 12 (1) p. 15572. Peer-reviewed.
 
A Rapid Translational Immune Response Program in CD8 Memory T Lymphocytes.
Salloum D., Singh K., Davidson N.R., Cao L., Kuo D., Sanghvi V.R., Jiang M., Lafoz M.T., Viale A., Ratsch G. et al., 2022/09/15. Journal of immunology, 209 (6) pp. 1189-1199. Peer-reviewed.
SECEDO: SNV-based subclone detection using ultra-low coverage single-cell DNA sequencing.
Rozhoňová H., Danciu D., Stark S., Rätsch G., Kahles A., Lehmann K.V., 2022/09/15. Bioinformatics, 38 (18) pp. 4293-4300. Peer-reviewed.
Rhythmicity is linked to expression cost at the protein level but to expression precision at the mRNA level
Laloum David, Robinson-Rechavi Marc, 2022/09/12. PLOS Computational Biology, 18 (9) pp. e1010399. Peer-reviewed.
 
Connexins orchestrate progression of breast cancer metastasis to the brain by promoting FAK activation.
Lorusso G., Wyss C.B., Kuonen F., Vannini N., Billottet C., Duffey N., Pineau R., Lan Q., Wirapati P., Barras D. et al., 2022/09/07. Science translational medicine, 14 (661) pp. eaax8933. Peer-reviewed.
Secondary IDH1 resistance mutations and oncogenic IDH2 mutations cause acquired resistance to ivosidenib in cholangiocarcinoma.
Cleary J.M., Rouaisnel B., Daina A., Raghavan S., Roller L.A., Huffman B.M., Singh H., Wen P.Y., Bardeesy N., Zoete V. et al., 2022/09/02. NPJ precision oncology, 6 (1) p. 61. Peer-reviewed.
Cocirculation of Leptospira spp. and multiple orthohantaviruses in rodents, Lithuania, Northern Europe.
Jeske K., Schulz J., Tekemen D., Balčiauskas L., Balčiauskienė L., Hiltbrunner M., Drewes S., Mayer-Scholl A., Heckel G., Ulrich R.G., 2022/09. Transboundary and emerging diseases, 69 (5) pp. e3196-e3201. Peer-reviewed.
Cross-GWAS coherence test at the gene and pathway level.
Krefl D., Bergmann S., 2022/09. PLoS computational biology, 18 (9) pp. e1010517. Peer-reviewed.
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention.
Wang Z., Emmerich A., Pillon N.J., Moore T., Hemerich D., Cornelis M.C., Mazzaferro E., Broos S., Ahluwalia T.S., Bartz T.M. et al., 2022/09. Nature genetics, 54 (9) pp. 1332-1344. Peer-reviewed.
In situ hybridization to detect DNA amplification in extracellular vesicles.
Casadei L., Sarchet P., de Faria FCC, Calore F., Nigita G., Tahara S., Cascione L., Wabitsch M., Hornicek F.J., Grignol V. et al., 2022/09. Journal of extracellular vesicles, 11 (9) pp. e12251. Peer-reviewed.
Multi-omics subtyping of hepatocellular carcinoma patients using a Bayesian network mixture model.
Suter P., Dazert E., Kuipers J., Ng CKY, Boldanova T., Hall M.N., Heim M.H., Beerenwinkel N., 2022/09. PLoS computational biology, 18 (9) pp. e1009767. Peer-reviewed.
POH1/Rpn11/PSMD14: a journey from basic research in fission yeast to a prognostic marker and a druggable target in cancer cells.
Spataro V., Buetti-Dinh A., 2022/09. British journal of cancer, 127 (5) pp. 788-799. Peer-reviewed.
 
Transcriptional and functional analyses of neoantigen-specific CD4 T cells during a profound response to anti-PD-L1 in metastatic Merkel cell carcinoma.
Church C., Pulliam T., Longino N., Park S.Y., Smythe K.S., Makarov V., Riaz N., Jing L., Amezquita R., Campbell J.S. et al., 2022/09. Journal for immunotherapy of cancer, 10 (9) pp. e005328. Peer-reviewed.
Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy.
Parikh V.N., Ioannidis A.G., Jimenez-Morales D., Gorzynski J.E., De Jong H.N., Liu X., Roque J., Cepeda-Espinoza V.P., Osoegawa K., Hughes C. et al., 2022/08/30. Nature communications, 13 (1) p. 5107. Peer-reviewed.
Intracranial Aneurysm Classifier Using Phenotypic Factors: An International Pooled Analysis.
Morel S., Hostettler I.C., Spinner G.R., Bourcier R., Pera J., Meling T.R., Alg V.S., Houlden H., Bakker M.K., Van't Hof F. et al., 2022/08/30. Journal of personalized medicine, 12 (9) p. 1410. Peer-reviewed.
Shared regulation and functional relevance of local gene co-expression revealed by single cell analysis.
M Ribeiro D., Ziyani C., Delaneau O., 2022/08/26. Communications biology, 5 (1) p. 876. Peer-reviewed.
Decoding Functional High-Density Lipoprotein Particle Surfaceome Interactions.
Frey K., Goetze S., Rohrer L., von Eckardstein A., Wollscheid B., 2022/08/22. International journal of molecular sciences, 23 (16) p. 9506. Peer-reviewed.
Molecular effects of the consumption of margarine and butter varying in trans fat composition: a parallel human intervention study.
Guggisberg D., Burton-Pimentel K.J., Walther B., Badertscher R., Blaser C., Portmann R., Schmid A., Radtke T., Saner H., Fournier N. et al., 2022/08/18. Lipids in health and disease, 21 (1) p. 74. Peer-reviewed.
 
Metacells untangle large and complex single-cell transcriptome networks.
Bilous M., Tran L., Cianciaruso C., Gabriel A., Michel H., Carmona S.J., Pittet M.J., Gfeller D., 2022/08/13. BMC bioinformatics, 23 (1) p. 336. Peer-reviewed.
Limited evidence for blood eQTLs in human sexual dimorphism.
Porcu E., Claringbould A., Weihs A., Lepik K., BIOS Consortium, Richardson T.G., Völker U., Santoni F.A., Teumer A., Franke L. et al., 2022/08/11. Genome medicine, 14 (1) p. 89. Peer-reviewed.
Islet Gene View-a tool to facilitate islet research.
Asplund O., Storm P., Chandra V., Hatem G., Ottosson-Laakso E., Mansour-Aly D., Krus U., Ibrahim H., Ahlqvist E., Tuomi T. et al., 2022/08/10. Life science alliance, 5 (12) pp. e202201376. Peer-reviewed.
 
Dynamic and adaptive cancer stem cell population admixture in colorectal neoplasia.
Vasquez E.G., Nasreddin N., Valbuena G.N., Mulholland E.J., Belnoue-Davis H.L., Eggington H.R., Schenck R.O., Wouters V.M., Wirapati P., Gilroy K. et al., 2022/08/04. Cell stem cell, 29 (8) pp. 1213-1228.e8. Peer-reviewed.
Federating and querying heterogeneous and distributed Web APIs and triple stores
Mendes de Farias Tarcisio, Dessimoz Christophe, Ayllon Benitez Aaron, Yang Chen, Long Jiao, Sima Ana-Claudia, 2022/08/02. dans 2022 ISMB Bio-Ontologies Community of Special Interest. Peer-reviewed.
 
A Baseline Cellular Antiviral State Is Maintained by cGAS and Its Most Frequent Naturally Occurring Variant rs610913.
Kazmierski J., Elsner C., Döhner K., Xu S., Ducroux A., Pott F., Jansen J., Thorball C.W., Zeymer O., Zhou X. et al., 2022/08/01. Journal of immunology, 209 (3) pp. 535-547. Peer-reviewed.
Dynamics of sex-biased gene expression during development in the stick insect Timema californicum.
Djordjevic J., Dumas Z., Robinson-Rechavi M., Schwander T., Parker D.J., 2022/08. Heredity, 129 (2) pp. 113-122. Peer-reviewed.
 
Every islet matters: improving the impact of human islet research.
Gloyn A.L., Ibberson M., Marchetti P., Powers A.C., Rorsman P., Sander M., Solimena M., 2022/08. Nature metabolism, 4 (8) pp. 970-977. Peer-reviewed.
Haematological changes from conception to childbirth: An indicator of major pregnancy complications.
Patxot M., Stojanov M., Ojavee S.E., Pescini Gobert R., Kutalik Z., Gavillet M., Baud D., Robinson M.R., 2022/08. European journal of haematology, 109 (5) pp. 566-575. Peer-reviewed.
 
Nodal cytotoxic peripheral T-cell lymphoma occurs frequently in the clinical setting of immunodysregulation and is associated with recurrent epigenetic alterations.
Nicolae A., Bouilly J., Lara D., Fataccioli V., Lemonnier F., Drieux F., Parrens M., Robe C., Poullot E., Bisig B. et al., 2022/08. Modern pathology, 35 (8) pp. 1126-1136. Peer-reviewed.
Recommendations for connecting molecular sequence and biodiversity research infrastructures through ELIXIR
Waterhouse Robert M., Adam-Blondon Anne-Françoise, Agosti Donat, Baldrian Petr, Balech Bachir, Corre Erwan, Davey Robert P., Lantz Henrik, Pesole Graziano, Quast Christian et al., 2022/08/01. F1000Research, 10 p. 1238. Peer-reviewed.
 
Selection of data sets for FAIRification in drug discovery and development: Which, why, and how?
Alharbi E., Gadiya Y., Henderson D., Zaliani A., Delfin-Rossaro A., Cambon-Thomsen A., Kohler M., Witt G., Welter D., Juty N. et al., 2022/08. Drug discovery today, 27 (8) pp. 2080-2085. Peer-reviewed.
Improving polygenic prediction with genetically inferred ancestry.
Naret O., Kutalik Z., Hodel F., Xu Z.M., Marques-Vidal P., Fellay J., 2022/07/14. HGG advances, 3 (3) p. 100109. Peer-reviewed.
Polynomial Mendelian randomization reveals non-linear causal effects for obesity-related traits.
Sulc J., Sjaarda J., Kutalik Z., 2022/07/14. HGG advances, 3 (3) p. 100124. Peer-reviewed.
A CD4+ T cell reference map delineates subtype-specific adaptation during acute and chronic viral infections.
Andreatta M., Tjitropranoto A., Sherman Z., Kelly M.C., Ciucci T., Carmona S.J., 2022/07/13. eLife, 11 pp. e76339. Peer-reviewed.
ADAMTS18<sup>+</sup> villus tip telocytes maintain a polarized VEGFA signaling domain and fenestrations in nutrient-absorbing intestinal blood vessels.
Bernier-Latmani J., Mauri C., Marcone R., Renevey F., Durot S., He L., Vanlandewijck M., Maclachlan C., Davanture S., Zamboni N. et al., 2022/07/09. Nature communications, 13 (1) p. 3983. Peer-reviewed.
 
Dissecting the treatment-naive ecosystem of human melanoma brain metastasis.
Biermann J., Melms J.C., Amin A.D., Wang Y., Caprio L.A., Karz A., Tagore S., Barrera I., Ibarra-Arellano M.A., Andreatta M. et al., 2022/07/07. Cell, 185 (14) pp. 2591-2608.e30. Peer-reviewed.
Discovery of archaeal fusexins homologous to eukaryotic HAP2/GCS1 gamete fusion proteins.
Moi D., Nishio S., Li X., Valansi C., Langleib M., Brukman N.G., Flyak K., Dessimoz C., de Sanctis D., Tunyasuvunakool K. et al., 2022/07/06. Nature communications, 13 (1) p. 3880. Peer-reviewed.
The Quest for Orthologs orthology benchmark service in 2022.
Nevers Y., Jones TEM, Jyothi D., Yates B., Ferret M., Portell-Silva L., Codo L., Cosentino S., Marcet-Houben M., Vlasova A. et al., 2022/07/05. Nucleic acids research, 50 (W1) pp. W623-W632. Peer-reviewed.
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