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Manuel A. Rivas
Manuel A. Rivas
Assistant Professor, Department of Biomedical Data Science, Stanford University
Email verificata su stanford.edu - Home page
Titolo
Citata da
Citata da
Anno
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
120862011
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
105752016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
89062010
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
81502013
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
47752015
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
21142013
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
12892016
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
11672021
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
9242017
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
9012011
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
8052021
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
7772015
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
7622019
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
7332011
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
7322011
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
6782017
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
5902021
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
4272010
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease
KY Hui, H Fernandez-Hernandez, J Hu, A Schaffner, N Pankratz, NY Hsu, ...
Science translational medicine 10 (423), eaai7795, 2018
3782018
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
3622015
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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