The UK10K project identifies rare variants in health and disease.
Walter, Klaudia; Min, Josine L; Huang, Jie; Crooks, Lucy; Memari, Yasin; McCarthy, Shane; Perry, John R B; Xu, ChangJiang; Futema, Marta; Lawson, Daniel; Iotchkova, Valentina; Schiffels, Stephan; Hendricks, Audrey E; Danecek, Petr; Li, Rui; Floyd, James; Wain, Louise V; Barroso, Inês; Humphries, Steve E; Hurles, Matthew E; Zeggini, Eleftheria; Barrett, Jeffrey C; Plagnol, Vincent; Richards, J Brent; Greenwood, Celia M T; Timpson, Nicholas J; Durbin, Richard; Soranzo, Nicole.
; 526(7571): 82-90, 2015 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-26367797
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Variant detection sensitivity and biases in whole genome and exome sequencing.
Identification of cis-suppression of human disease mutations by comparative genomics.
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Recommendations for the integration of genomics into clinical practice.
Coding-sequence variants are associated with blood lipid levels in 14,473 Chinese.
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
Genetic effects on gene expression across human tissues.