Prati
Monkol Lek
Monkol Lek
Yale University School of Medicine
Potvrđena adresa e-pošte na yale.edu
Naslov
Citirano
Citirano
Godina
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
159902015
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
107132016
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
85532012
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
80562020
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
47882015
Genetic effects on gene expression across human tissues
GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ...
Nature 550 (7675), 204-213, 2017
35192017
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
21212013
Scaling accurate genetic variant discovery to tens of thousands of samples
R Poplin, V Ruano-Rubio, MA DePristo, TJ Fennell, MO Carneiro, ...
BioRxiv, 201178, 2017
15392017
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
biorxiv, 531210, 2019
11782019
High-throughput discovery of novel developmental phenotypes
ME Dickinson, AM Flenniken, X Ji, L Teboul, MD Wong, JK White, ...
Nature 537 (7621), 508-514, 2016
11372016
The UK10K project identifies rare variants in health and disease
Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ...
Nature 526 (7571), 82-90, 2015
11242015
The ExAC browser: displaying reference data information from over 60 000 exomes
KJ Karczewski, B Weisburd, B Thomas, M Solomonson, DM Ruderfer, ...
Nucleic acids research 45 (D1), D840-D845, 2017
7862017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ...
Science translational medicine 9 (386), eaal5209, 2017
7032017
Dynamic landscape and regulation of RNA editing in mammals
MH Tan, Q Li, R Shanmugam, R Piskol, J Kohler, AN Young, KI Liu, ...
Nature 550 (7675), 249-254, 2017
5892017
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico
AL Williams, SBR Jacobs, H Moreno-Macías, A Huerta-Chagoya, ...
Nature 506 (7486), 97-101, 2014
5742014
Distribution and medical impact of loss-of-function variants in the Finnish founder population
ET Lim, P Würtz, AS Havulinna, P Palta, T Tukiainen, K Rehnström, ...
PLoS genetics 10 (7), e1004494, 2014
4712014
Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus
W Yang, N Shen, DQ Ye, Q Liu, Y Zhang, XX Qian, N Hirankarn, D Ying, ...
PLoS genetics 6 (2), e1000841, 2010
4642010
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini
Nature communications 5 (1), 3934, 2014
4602014
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ...
Nature communications 6 (1), 8111, 2015
4382015
Quantifying prion disease penetrance using large population control cohorts
EV Minikel, SM Vallabh, M Lek, K Estrada, KE Samocha, ...
Science translational medicine 8 (322), 322ra9-322ra9, 2016
3832016
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