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dc.contributor.authorHuang, Jieen_US
dc.contributor.authorHowie, Bryanen_US
dc.contributor.authorMcCarthy, Shaneen_US
dc.contributor.authorMemari, Yasinen_US
dc.contributor.authorWalter, Klaudiaen_US
dc.contributor.authorMin, Josine L.en_US
dc.contributor.authorDanecek, Petren_US
dc.contributor.authorMalerba, Giovannien_US
dc.contributor.authorTrabetti, Elisabettaen_US
dc.contributor.authorZheng, Hou-Fengen_US
dc.contributor.authorAl Turki, Saeeden_US
dc.contributor.authorAmuzu, Antoinetteen_US
dc.contributor.authorAnderson, Carl A.en_US
dc.contributor.authorAnney, Richarden_US
dc.contributor.authorAntony, Dinuen_US
dc.contributor.authorArtigas, María Soleren_US
dc.contributor.authorAyub, Muhammaden_US
dc.contributor.authorBala, Senduranen_US
dc.contributor.authorBarrett, Jeffrey C.en_US
dc.contributor.authorBarroso, Inêsen_US
dc.contributor.authorBeales, Philen_US
dc.contributor.authorBenn, Marianneen_US
dc.contributor.authorBentham, Jamieen_US
dc.contributor.authorBhattacharya, Shoumoen_US
dc.contributor.authorBirney, Ewanen_US
dc.contributor.authorBlackwood, Douglasen_US
dc.contributor.authorBobrow, Martinen_US
dc.contributor.authorBochukova, Elenaen_US
dc.contributor.authorBolton, Patrick F.en_US
dc.contributor.authorBounds, Rebeccaen_US
dc.contributor.authorBoustred, Chrisen_US
dc.contributor.authorBreen, Geromeen_US
dc.contributor.authorCalissano, Mattiaen_US
dc.contributor.authorCarss, Kerenen_US
dc.contributor.authorPablo Casas, Juanen_US
dc.contributor.authorChambers, John C.en_US
dc.contributor.authorCharlton, Ruthen_US
dc.contributor.authorChatterjee, Krishnaen_US
dc.contributor.authorChen, Luen_US
dc.contributor.authorCiampi, Antonioen_US
dc.contributor.authorCirak, Sebahattinen_US
dc.contributor.authorClapham, Peteren_US
dc.contributor.authorClement, Gailen_US
dc.contributor.authorCoates, Guyen_US
dc.contributor.authorCocca, Massimilianoen_US
dc.contributor.authorCollier, David A.en_US
dc.contributor.authorCosgrove, Catherineen_US
dc.contributor.authorCox, Tonyen_US
dc.contributor.authorCraddock, Nicken_US
dc.contributor.authorCrooks, Lucyen_US
dc.contributor.authorCurran, Sarahen_US
dc.contributor.authorCurtis, Daviden_US
dc.contributor.authorDaly, Allanen_US
dc.contributor.authorDay, Ian N. M.en_US
dc.contributor.authorDay-Williams, Aaronen_US
dc.contributor.authorDedoussis, Georgeen_US
dc.contributor.authorDown, Thomasen_US
dc.contributor.authorDu, Yuanpingen_US
dc.contributor.authorvan Duijn, Cornelia M.en_US
dc.contributor.authorDunham, Ianen_US
dc.contributor.authorEdkins, Sarahen_US
dc.contributor.authorEkong, Rosemaryen_US
dc.contributor.authorEllis, Peteren_US
dc.contributor.authorEvans, David M.en_US
dc.contributor.authorFarooqi, I. Sadafen_US
dc.contributor.authorFitzpatrick, David R.en_US
dc.contributor.authorFlicek, Paulen_US
dc.contributor.authorFloyd, Jamesen_US
dc.contributor.authorFoley, A. Reghanen_US
dc.contributor.authorFranklin, Christopher S.en_US
dc.contributor.authorFutema, Martaen_US
dc.contributor.authorGallagher, Louiseen_US
dc.contributor.authorGasparini, Paoloen_US
dc.contributor.authorGaunt, Tom R.en_US
dc.contributor.authorGeihs, Matthiasen_US
dc.contributor.authorGeschwind, Danielen_US
dc.contributor.authorGreenwood, Celiaen_US
dc.contributor.authorGriffin, Heatheren_US
dc.contributor.authorGrozeva, Detelinaen_US
dc.contributor.authorGuo, Xiaosenen_US
dc.contributor.authorGuo, Xueqinen_US
dc.contributor.authorGurling, Hughen_US
dc.contributor.authorHart, Deborahen_US
dc.contributor.authorHendricks, Audrey E.en_US
dc.contributor.authorHolmans, Peteren_US
dc.contributor.authorHuang, Lirenen_US
dc.contributor.authorHubbard, Timen_US
dc.contributor.authorHumphries, Steve E.en_US
dc.contributor.authorHurles, Matthew E.en_US
dc.contributor.authorHysi, Pirroen_US
dc.contributor.authorIotchkova, Valentinaen_US
dc.contributor.authorIsaacs, Aaronen_US
dc.contributor.authorJackson, David K.en_US
dc.contributor.authorJamshidi, Yaldaen_US
dc.contributor.authorJohnson, Jonen_US
dc.contributor.authorJoyce, Chrisen_US
dc.contributor.authorKarczewski, Konrad J.en_US
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dc.contributor.authorKeane, Thomasen_US
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dc.contributor.authorKent, Alastairen_US
dc.contributor.authorKeogh, Juliaen_US
dc.contributor.authorKhawaja, Farrahen_US
dc.contributor.authorKleber, Marcus E.en_US
dc.contributor.authorvan Kogelenberg, Margrieten_US
dc.contributor.authorKolb-Kokocinski, Anjaen_US
dc.contributor.authorKooner, Jaspal S.en_US
dc.contributor.authorLachance, Genevieveen_US
dc.contributor.authorLangenberg, Claudiaen_US
dc.contributor.authorLangford, Cordeliaen_US
dc.contributor.authorLawson, Danielen_US
dc.contributor.authorLee, Ireneen_US
dc.contributor.authorvan Leeuwen, Elisabeth M.en_US
dc.contributor.authorLek, Monkolen_US
dc.contributor.authorLi, Ruien_US
dc.contributor.authorLi, Yingruien_US
dc.contributor.authorLiang, Jieqinen_US
dc.contributor.authorLin, Hongen_US
dc.contributor.authorLiu, Ryanen_US
dc.contributor.authorLönnqvist, Joukoen_US
dc.contributor.authorLopes, Luis R.en_US
dc.contributor.authorLopes, Margaridaen_US
dc.contributor.authorLuan, Jian'anen_US
dc.contributor.authorMacArthur, Daniel G.en_US
dc.contributor.authorMangino, Massimoen_US
dc.contributor.authorMarenne, Gaëlleen_US
dc.contributor.authorMärz, Winfrieden_US
dc.contributor.authorMaslen, Johnen_US
dc.contributor.authorMatchan, Angelaen_US
dc.contributor.authorMathieson, Iainen_US
dc.contributor.authorMcGuffin, Peteren_US
dc.contributor.authorMcIntosh, Andrew M.en_US
dc.contributor.authorMcKechanie, Andrew G.en_US
dc.contributor.authorMcQuillin, Andrewen_US
dc.contributor.authorMetrustry, Sarahen_US
dc.contributor.authorMigone, Nicolaen_US
dc.contributor.authorMitchison, Hannah M.en_US
dc.contributor.authorMoayyeri, Alirezaen_US
dc.contributor.authorMorris, Jamesen_US
dc.contributor.authorMorris, Richarden_US
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dc.contributor.authorMuntoni, Francescoen_US
dc.contributor.authorNordestgaard, Børge G.en_US
dc.contributor.authorNorthstone, Kateen_US
dc.contributor.authorO'Donovan, Michael C.en_US
dc.contributor.authorO'Rahilly, Stephenen_US
dc.contributor.authorOnoufriadis, Alexandrosen_US
dc.contributor.authorOualkacha, Karimen_US
dc.contributor.authorOwen, Michael J.en_US
dc.contributor.authorPalotie, Aarnoen_US
dc.contributor.authorPanoutsopoulou, Kalliopeen_US
dc.contributor.authorParker, Victoriaen_US
dc.contributor.authorParr, Jeremy R.en_US
dc.contributor.authorPaternoster, Laviniaen_US
dc.contributor.authorPaunio, Tiinaen_US
dc.contributor.authorPayne, Felicityen_US
dc.contributor.authorPayne, Stewart J.en_US
dc.contributor.authorPerry, John R. B.en_US
dc.contributor.authorPietilainen, Ollien_US
dc.contributor.authorPlagnol, Vincenten_US
dc.contributor.authorPollitt, Rebecca C.en_US
dc.contributor.authorPovey, Sueen_US
dc.contributor.authorQuail, Michael A.en_US
dc.contributor.authorQuaye, Lydiaen_US
dc.contributor.authorRaymond, Lucyen_US
dc.contributor.authorRehnström, Karolaen_US
dc.contributor.authorRidout, Cheryl K.en_US
dc.contributor.authorRing, Susanen_US
dc.contributor.authorRitchie, Graham R. S.en_US
dc.contributor.authorRoberts, Nicolaen_US
dc.contributor.authorRobinson, Rachel L.en_US
dc.contributor.authorSavage, David B.en_US
dc.contributor.authorScambler, Peteren_US
dc.contributor.authorSchiffels, Stephanen_US
dc.contributor.authorSchmidts, Miriamen_US
dc.contributor.authorSchoenmakers, Nadiaen_US
dc.contributor.authorScott, Richard H.en_US
dc.contributor.authorScott, Robert A.en_US
dc.contributor.authorSemple, Robert K.en_US
dc.contributor.authorSerra, Evaen_US
dc.contributor.authorSharp, Sally I.en_US
dc.contributor.authorShaw, Adamen_US
dc.contributor.authorShihab, Hashem A.en_US
dc.contributor.authorShin, So-Younen_US
dc.contributor.authorSkuse, Daviden_US
dc.contributor.authorSmall, Kerrin S.en_US
dc.contributor.authorSmee, Carolen_US
dc.contributor.authorSmith, George Daveyen_US
dc.contributor.authorSoutham, Lorraineen_US
dc.contributor.authorSpasic-Boskovic, Oliveraen_US
dc.contributor.authorSpector, Timothy D.en_US
dc.contributor.authorSt Clair, Daviden_US
dc.contributor.authorSt Pourcain, Beateen_US
dc.contributor.authorStalker, Jimen_US
dc.contributor.authorStevens, Elizabethen_US
dc.contributor.authorSun, Jianpingen_US
dc.contributor.authorSurdulescu, Gabrielaen_US
dc.contributor.authorSuvisaari, Jaanaen_US
dc.contributor.authorSyrris, Petrosen_US
dc.contributor.authorTachmazidou, Ioannaen_US
dc.contributor.authorTaylor, Rohanen_US
dc.contributor.authorTian, Jingen_US
dc.contributor.authorTobin, Martin D.en_US
dc.contributor.authorToniolo, Danielaen_US
dc.contributor.authorTraglia, Michelaen_US
dc.contributor.authorTybjaerg-Hansen, Anneen_US
dc.contributor.authorValdes, Ana M.en_US
dc.contributor.authorVandersteen, Anthony M.en_US
dc.contributor.authorVarbo, Anetteen_US
dc.contributor.authorVijayarangakannan, Parthibanen_US
dc.contributor.authorVisscher, Peter M.en_US
dc.contributor.authorWain, Louise V.en_US
dc.contributor.authorWalters, James T. R.en_US
dc.contributor.authorWang, Guangbiaoen_US
dc.contributor.authorWang, Junen_US
dc.contributor.authorWang, Yuen_US
dc.contributor.authorWard, Kirstenen_US
dc.contributor.authorWheeler, Eleanoren_US
dc.contributor.authorWhincup, Peteren_US
dc.contributor.authorWhyte, Tamiekaen_US
dc.contributor.authorWilliams, Hywel J.en_US
dc.contributor.authorWilliamson, Kathleen A.en_US
dc.contributor.authorWilson, Crispianen_US
dc.contributor.authorWilson, Scott G.en_US
dc.contributor.authorWong, Kimen_US
dc.contributor.authorXu, ChangJiangen_US
dc.contributor.authorYang, Jianen_US
dc.contributor.authorZaza, Gianluigien_US
dc.contributor.authorZeggini, Eleftheriaen_US
dc.contributor.authorZhang, Fengen_US
dc.contributor.authorZhang, Pingboen_US
dc.contributor.authorZhang, Weihuaen_US
dc.contributor.authorGambaro, Giovannien_US
dc.contributor.authorRichards, J. Brenten_US
dc.contributor.authorDurbin, Richarden_US
dc.contributor.authorTimpson, Nicholas J.en_US
dc.contributor.authorMarchini, Jonathanen_US
dc.contributor.authorSoranzo, Nicoleen_US
dc.date.accessioned2015-11-03T15:58:13Z
dc.date.issued2015en_US
dc.identifier.citationHuang, J., B. Howie, S. McCarthy, Y. Memari, K. Walter, J. L. Min, P. Danecek, et al. 2015. “Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.” Nature Communications 6 (1): 8111. doi:10.1038/ncomms9111. http://dx.doi.org/10.1038/ncomms9111.en
dc.identifier.issn2041-1723en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:23473994
dc.description.abstractImputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the British population. Here we demonstrate the value of this resource for improving imputation accuracy at rare and low-frequency variants in both a UK and an Italian population. We show that large increases in imputation accuracy can be achieved by re-phasing WGS reference panels after initial genotype calling. We also present a method for combining WGS panels to improve variant coverage and downstream imputation accuracy, which we illustrate by integrating 7,562 WGS haplotypes from the UK10K project with 2,184 haplotypes from the 1000 Genomes Project. Finally, we introduce a novel approximation that maintains speed without sacrificing imputation accuracy for rare variants.en
dc.language.isoen_USen
dc.publisherNature Pub. Groupen
dc.relation.isversionofdoi:10.1038/ncomms9111en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4579394/pdf/en
dash.licenseLAAen_US
dc.titleImproved imputation of low-frequency and rare variants using the UK10K haplotype reference panelen
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalNature Communicationsen
dash.depositing.authorAl Turki, Saeeden_US
dc.date.available2015-11-03T15:58:13Z
dc.identifier.doi10.1038/ncomms9111*
dash.authorsorderedfalse
dash.contributor.affiliatedAl Turki, Saeed
dash.contributor.affiliatedKarczewski, Konrad
dash.contributor.affiliatedMacArthur, Daniel
dash.contributor.affiliatedLek, Monkol
dash.contributor.affiliatedMathieson, Iain


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