Manuel A. Rivas
Manuel A. Rivas
Assistant Professor, Department of Biomedical Data Science, Stanford University
Verified email at stanford.edu - Homepage
TitleCited byYear
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, 2011
67022011
A map of human genome variation from population-scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
66502010
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, 2016
52422016
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, 2013
25712013
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
GTEx Consortium
Science 348 (6235), 648-660, 2015
20142015
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedlšnder, P AC‘t Hoen, J Monlong, ...
Nature 501 (7468), 506, 2013
12302013
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, 2011
6392011
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41, 2016
5922016
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
5612011
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
4482011
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
R Do, NO Stitziel, HH Won, AB JÝrgensen, S Duga, PA Merlini, A Kiezun, ...
Nature 518 (7537), 102, 2015
4282015
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, 2010
3082010
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, 2017
2642017
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines
E Choy, R Yelensky, S Bonakdar, RM Plenge, R Saxena, PL De Jager, ...
PLoS genetics 4 (11), e1000287, 2008
2262008
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
E Ruark, K Snape, P Humburg, C Loveday, I Bajrami, R Brough, ...
Nature 493 (7432), 406, 2013
1932013
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol
LA Lange, Y Hu, H Zhang, C Xue, EM Schmidt, ZZ Tang, C Bizon, ...
The American Journal of Human Genetics 94 (2), 233-245, 2014
1742014
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
1562015
Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis
M Beaudoin, P Goyette, G Boucher, KS Lo, MA Rivas, C Stevens, ...
PLoS genetics 9 (9), e1003723, 2013
1312013
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, 2017
1302017
Choice of transcripts and software has a large effect on variant annotation
DJ McCarthy, P Humburg, A Kanapin, MA Rivas, K Gaulton, JB Cazier, ...
Genome medicine 6 (3), 26, 2014
1292014
The system can't perform the operation now. Try again later.
Articles 1–20