Comprehensive catalog of protein-coding genetic variation in 60,706 humans

URI: https://gptkb.org/entity/Comprehensive_catalog_of_protein-coding_genetic_variation_in_60,706_humans
GPTKB entity
Statements (31)
Predicate Object
gptkbp:instanceOf gptkb:academic_journal
gptkbp:alsoKnownAs gptkb:ExAC_study
gptkbp:author gptkb:Anne_H._O'Donnell-Luria
gptkb:Eric_Banks
gptkb:Eric_V._Minikel
gptkb:Kaitlin_E._Samocha
gptkb:Monkol_Lek
gptkb:Konrad_J._Karczewski
gptkb:Beryl_B._Cummings
gptkb:Caroline_A._MacArthur
gptkb:Daniel_G._MacArthur
gptkb:Daniel_M._Jordan
gptkb:James_S._Ware
gptkb:Mark_J._Daly
gptkb:Timothy_Ware
gptkb:Tomasz_Lek
gptkbp:dataSource gptkb:Exome_Aggregation_Consortium_(ExAC)
gptkbp:doi 10.1038/nature19057
27535533
gptkbp:focus protein-coding genetic variation
https://www.w3.org/2000/01/rdf-schema#label Comprehensive catalog of protein-coding genetic variation in 60,706 humans
gptkbp:impact provided a reference for human genetic variation
gptkbp:publicationYear 2016
gptkbp:publishedIn gptkb:Nature
gptkbp:size 60706
gptkbp:url https://www.nature.com/articles/nature19057
gptkbp:usedFor population genetics research
disease gene discovery
clinical interpretation of genetic variants
gptkbp:bfsParent gptkb:Lek_et_al.,_Nature_2016
gptkbp:bfsLayer 6