Manuel A. Rivas

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Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstituteVerified email at atgu.mgh.harvard.edu
Aaron McKennaGeisel School of Medicine, Dartmouth CollegeVerified email at dartmouth.edu
Mark DePristoBigHat BiosciencesVerified email at bighatbio.com
Matti PirinenUniversity of HelsinkiVerified email at helsinki.fi
Benjamin NealeAssociate Professor, Analytic and Translational Genetics Unit, Massachusetts General HospitalVerified email at broadinstitute.org
Tuuli LappalainenSciLifeLab, KTH Royal Institute of Technology & New York Genome CenterVerified email at nygenome.org
Chris CotsapasYale School of MedicineVerified email at broadinstitute.org
Kyle Jeffrie GaultonWinkler Endowed Chair in Type 1 Diabetes; Associate Professor of Pediatrics, UCSDVerified email at ucsd.edu
Daniel G MacArthurGarvan Institute of Medical Research, Murdoch Children's Research InstituteVerified email at atgu.mgh.harvard.edu
Emmanouil Dermitzakis, Manolis Der...VP Computational Biology, GSKVerified email at gsk.com
Shaun PurcellSleep & Neurogenetics Lab, Brigham & Women's Hospital, BostonVerified email at bwh.harvard.edu
Benjamin F. VoightAssociate Professor, Dept. of Systems Pharmacology and Translational Therapeutics, Dept. of GeneticsVerified email at pennmedicine.upenn.edu
Kathryn RoederProfessor of Statistics, Carnegie Mellon UniversityVerified email at andrew.cmu.edu
Bernie DevlinUniversity of Pittsburgh School of MedicineVerified email at upmc.edu
Loukas MoutsianasWHRI, QMUL & Genomics EnglandVerified email at qmul.ac.uk
Noah A ZaitlenProfessor at UCLAVerified email at ucla.edu
Vamsi MoothaMassachusetts General Hospital, Harvard Medical School, HHMIVerified email at hms.harvard.edu
Sarah E CalvoBroad Institute, Massachusetts General Hospital, Harvard Medical SchoolVerified email at broadinstitute.org
Robert PlengeVerified email at partners.org
Roman YelenskyCTO, Gritstone OncologyVerified email at gritstone.com

Manuel A. Rivas

Assistant Professor, Department of Biomedical Data Science, Stanford University

Verified email at stanford.edu - Homepage

Human Genetics Statistics Therapeutics Sequencing Biobanks and Integrated Health care systems


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A framework for variation discovery and genotyping using next-generation DNA sequencing data MA DePristo, E Banks, R Poplin, KV Garimella, JR Maguire, C Hartl, ... Nature genetics 43 (5), 491-498, 2011	10687	2011
Analysis of protein-coding genetic variation in 60,706 humans M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ... Nature 536 (7616), 285-291, 2016	9483	2016
A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010	8381	2010
The genotype-tissue expression (GTEx) project J Lonsdale, J Thomas, M Salvatore, R Phillips, E Lo, S Shad, R Hasz, ... Nature genetics 45 (6), 580-585, 2013	6543	2013
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans GTEx Consortium, KG Ardlie, DS Deluca, AV Segrè, TJ Sullivan, ... Science 348 (6235), 648-660, 2015	4169	2015
Transcriptome and genome sequencing uncovers functional variation in humans T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ... Nature 501 (7468), 506-511, 2013	1923	2013
The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016	1122	2016
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease MA Rivas, M Beaudoin, A Gardet, C Stevens, Y Sharma, CK Zhang, ... Nature genetics 43 (11), 1066-1073, 2011	827	2011
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction R Do, NO Stitziel, HH Won, AB Jørgensen, S Duga, P Angelica Merlini, ... Nature 518 (7537), 102-106, 2015	708	2015
Landscape of X chromosome inactivation across human tissues T Tukiainen, AC Villani, A Yen, MA Rivas, JL Marshall, R Satija, M Aguirre, ... Nature 550 (7675), 244-248, 2017	705	2017
Testing for an unusual distribution of rare variants BM Neale, MA Rivas, BF Voight, D Altshuler, B Devlin, M Orho-Melander, ... PLoS genetics 7 (3), e1001322, 2011	698	2011
Demographic history and rare allele sharing among human populations S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ... Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011	669	2011
Rare and low-frequency coding variants alter human adult height E Marouli, M Graff, C Medina-Gomez, KS Lo, AR Wood, TR Kjaer, RS Fine, ... Nature 542 (7640), 186-190, 2017	582	2017
Opportunities and challenges for transcriptome-wide association studies M Wainberg, N Sinnott-Armstrong, N Mancuso, AN Barbeira, DA Knowles, ... Nature genetics 51 (4), 592-599, 2019	520	2019
Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021	517	2021
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency SE Calvo, EJ Tucker, AG Compton, DM Kirby, G Crawford, NP Burtt, ... Nature genetics 42 (10), 851-858, 2010	405	2010
Genetics of 35 blood and urine biomarkers in the UK Biobank N Sinnott-Armstrong, Y Tanigawa, D Amar, N Mars, C Benner, M Aguirre, ... Nature genetics 53 (2), 185-194, 2021	319	2021
Effect of predicted protein-truncating genetic variants on the human transcriptome MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ... Science 348 (6235), 666-669, 2015	298	2015
A cross-population atlas of genetic associations for 220 human phenotypes S Sakaue, M Kanai, Y Tanigawa, J Karjalainen, M Kurki, S Koshiba, ... Nature genetics 53 (10), 1415-1424, 2021	286	2021
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity V Turcot, Y Lu, HM Highland, C Schurmann, AE Justice, RS Fine, ... Nature genetics 50 (1), 26-41, 2018	281	2018

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