A reference panel of 64,976 haplotypes for genotype imputation.
Shane A McCarthySayantan DasWarren W KretzschmarOlivier DelaneauAndrew R WoodAlexander TeumerHyun Min KangChristian FuchsbergerPetr DanecekKevin SharpYang LuoCarlo SidoreAlan KwongNicholas TimpsonSeppo KoskinenScott VriezeLaura J ScottHe ZhangAnubha MahajanJan VeldinkUlrike PetersCarlos PatoCornelia M van DuijnChristopher E GilliesIlaria GandinMassimo MezzavillaArthur GillyMassimiliano CoccaMichela TragliaAndrea AngiusJeffrey C BarrettDorrett BoomsmaKari BranhamGerome BreenChad M BrummettFabio BusoneroHarry CampbellAndrew ChanSai ChenEmily ChewFrancis S CollinsLaura J CorbinGeorge Davey SmithGeorge DedoussisMarcus DorrAliki-Eleni FarmakiLuigi FerrucciLukas ForerRoss M FraserStacey GabrielShawn LevyLeif GroopTabitha HarrisonAndrew HattersleyOddgeir L HolmenKristian HveemMatthias KretzlerJames C LeeMatt McGueThomas MeitingerDavid MelzerJosine L MinKaren L MohlkeJohn B VincentMatthias NauckDeborah NickersonAarno PalotieMichele PatoNicola PirastuMelvin McInnisJ Brent RichardsCinzia SalaVeikko SalomaaDavid SchlessingerSebastian SchoenherrP Eline SlagboomKerrin SmallTimothy SpectorDwight StambolianMarcus TukeJaakko TuomilehtoLeonard H Van den BergWouter Van RheenenUwe VolkerCisca WijmengaDaniela TonioloEleftheria ZegginiPaolo GaspariniMatthew G SampsonJames F WilsonTimothy FraylingPaul I W de BakkerMorris A SwertzSteven McCarrollCharles KooperbergAnnelot DekkerDavid AltshulerCristen WillerWilliam IaconoSamuli RipattiNicole SoranzoKlaudia WalterAnand SwaroopFrancesco CuccaCarl A AndersonRichard M MyersMichael BoehnkeMark I McCarthyRichard Durbinnull nullPublished in: Nature genetics (2016)
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.