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Page 1
Analysis of protein-coding genetic variation in 60,706 humans.
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
Nature. 2016.
PMID: 27535533
Free PMC article.
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Carlston CM, O'Donnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP; Exome Aggregation Consortium; Tvrdik T, MacArthur DG, Mao R.
Carlston CM, et al.
Hum Mutat. 2017 May;38(5):517-523. doi: 10.1002/humu.23203. Epub 2017 Mar 21.
Hum Mutat. 2017.
PMID: 28229513
Free PMC article.
Review.
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The ExAC browser: displaying reference data information from over 60 000 exomes.
Karczewski KJ, Weisburd B, Thomas B, Solomonson M, Ruderfer DM, Kavanagh D, Hamamsy T, Lek M, Samocha KE, Cummings BB, Birnbaum D; The Exome Aggregation Consortium; Daly MJ, MacArthur DG.
Karczewski KJ, et al.
Nucleic Acids Res. 2017 Jan 4;45(D1):D840-D845. doi: 10.1093/nar/gkw971. Epub 2016 Nov 28.
Nucleic Acids Res. 2017.
PMID: 27899611
Free PMC article.
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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanagh D, Samocha KE; Exome Aggregation Consortium; Daly MJ, MacArthur DG, Fromer M, Purcell SM.
Ruderfer DM, et al.
Nat Genet. 2016 Oct;48(10):1107-11. doi: 10.1038/ng.3638. Epub 2016 Aug 17.
Nat Genet. 2016.
PMID: 27533299
Free PMC article.
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Quantifying prion disease penetrance using large population control cohorts.
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM; Exome Aggregation Consortium (ExAC); Daly MJ, MacArthur DG.
Minikel EV, et al.
Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169.
Sci Transl Med. 2016.
PMID: 26791950
Free PMC article.
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ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing.
Beauchamp EM, Leventhal M, Bernard E, Hoppe ER, Todisco G, Creignou M, Gallì A, Castellano CA, McConkey M, Tarun A, Wong W, Schenone M, Stanclift C, Tanenbaum B, Malolepsza E, Nilsson B, Bick AG, Weinstock JS, Miller M, Niroula A, Dunford A, Taylor-Weiner A, Wood T, Barbera A, Anand S, Psaty BM, Desai P, Cho MH, Johnson AD, Loos R; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; MacArthur DG, Lek M; Exome Aggregation Consortium; Neuberg DS, Lage K, Carr SA, Hellstrom-Lindberg E, Malcovati L, Papaemmanuil E, Stewart C, Getz G, Bradley RK, Jaiswal S, Ebert BL.
Beauchamp EM, et al.
Blood Cancer Discov. 2021 Sep;2(5):500-517. doi: 10.1158/2643-3230.BCD-20-0224. Epub 2021 Jul 14.
Blood Cancer Discov. 2021.
PMID: 34568833
Free PMC article.
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Efficient genotype compression and analysis of large genetic-variation data sets.
Layer RM, Kindlon N, Karczewski KJ; Exome Aggregation Consortium; Quinlan AR.
Layer RM, et al.
Nat Methods. 2016 Jan;13(1):63-5. doi: 10.1038/nmeth.3654. Epub 2015 Nov 9.
Nat Methods. 2016.
PMID: 26550772
Free PMC article.
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