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Page 1
A brief history of human disease genetics.
Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI. Claussnitzer M, et al. Nature. 2020 Jan;577(7789):179-189. doi: 10.1038/s41586-019-1879-7. Epub 2020 Jan 8. Nature. 2020. PMID: 31915397 Free PMC article. Review.
The power of genetic diversity in genome-wide association studies of lipids.
Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Ruotsalainen SE, Havulinna AS, Veturi Y, Feng Q, Rosenthal EA, Lingren T, Pacheco JA, Pendergrass SA, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Hindy G, Rasheed A, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Willemsen G, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Yao J, Manichaikul A, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Sidore C, Fiorillo E, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Thuesen BH, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesl… See abstract for full author list ➔ Graham SE, et al. Nature. 2021 Dec;600(7890):675-679. doi: 10.1038/s41586-021-04064-3. Epub 2021 Dec 9. Nature. 2021. PMID: 34887591 Free PMC article.
Type 1 diabetes in diverse ancestries and the use of genetic risk scores.
Redondo MJ, Gignoux CR, Dabelea D, Hagopian WA, Onengut-Gumuscu S, Oram RA, Rich SS. Redondo MJ, et al. Lancet Diabetes Endocrinol. 2022 Aug;10(8):597-608. doi: 10.1016/S2213-8587(22)00159-0. Epub 2022 Jun 17. Lancet Diabetes Endocrinol. 2022. PMID: 35724677 Free PMC article. Review.
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention.
Wang Z, Emmerich A, Pillon NJ, Moore T, Hemerich D, Cornelis MC, Mazzaferro E, Broos S, Ahluwalia TS, Bartz TM, Bentley AR, Bielak LF, Chong M, Chu AY, Berry D, Dorajoo R, Dueker ND, Kasbohm E, Feenstra B, Feitosa MF, Gieger C, Graff M, Hall LM, Haller T, Hartwig FP, Hillis DA, Huikari V, Heard-Costa N, Holzapfel C, Jackson AU, Johansson Å, Jørgensen AM, Kaakinen MA, Karlsson R, Kerr KF, Kim B, Koolhaas CM, Kutalik Z, Lagou V, Lind PA, Lorentzon M, Lyytikäinen LP, Mangino M, Metzendorf C, Monroe KR, Pacolet A, Pérusse L, Pool R, Richmond RC, Rivera NV, Robiou-du-Pont S, Schraut KE, Schulz CA, Stringham HM, Tanaka T, Teumer A, Turman C, van der Most PJ, Vanmunster M, van Rooij FJA, van Vliet-Ostaptchouk JV, Zhang X, Zhao JH, Zhao W, Balkhiyarova Z, Balslev-Harder MN, Baumeister SE, Beilby J, Blangero J, Boomsma DI, Brage S, Braund PS, Brody JA, Bruinenberg M, Ekelund U, Liu CT, Cole JW, Collins FS, Cupples LA, Esko T, Enroth S, Faul JD, Fernandez-Rhodes L, Fohner AE, Franco OH, Galesloot TE, Gordon SD, Grarup N, Hartman CA, Heiss G, Hui J, Illig T, Jago R, James A, Joshi PK, Jung T, Kähönen M, Kilpeläinen TO, Koh WP, Kolcic I, Kraft PP, Kuusisto J, Launer LJ, Li A, Linneberg A, Lua… See abstract for full author list ➔ Wang Z, et al. Nat Genet. 2022 Sep;54(9):1332-1344. doi: 10.1038/s41588-022-01165-1. Epub 2022 Sep 7. Nat Genet. 2022. PMID: 36071172 Free PMC article.
IMMerge: merging imputation data at scale.
Zhu W, Chen HH, Petty AS, Petty LE, Polikowsky HG, Gamazon ER, Below JE, Highland HM. Zhu W, et al. Bioinformatics. 2023 Jan 1;39(1):btac750. doi: 10.1093/bioinformatics/btac750. Bioinformatics. 2023. PMID: 36413071 Free PMC article.
Monogenic and Polygenic Contributions to QTc Prolongation in the Population.
Nauffal V, Morrill VN, Jurgens SJ, Choi SH, Hall AW, Weng LC, Halford JL, Austin-Tse C, Haggerty CM, Harris SL, Wong EK, Alonso A, Arking DE, Benjamin EJ, Boerwinkle E, Min YI, Correa A, Fornwalt BK, Heckbert SR; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; Kooperberg C, Lin HJ, J F Loos R, Rice KM, Gupta N, Blackwell TW, Mitchell BD, Morrison AC, Psaty BM, Post WS, Redline S, Rehm HL, Rich SS, Rotter JI, Soliman EZ, Sotoodehnia N, Lunetta KL, Ellinor PT, Lubitz SA; TOPMed Investigators. Nauffal V, et al. Circulation. 2022 May 17;145(20):1524-1533. doi: 10.1161/CIRCULATIONAHA.121.057261. Epub 2022 Apr 7. Circulation. 2022. PMID: 35389749 Free PMC article.
WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE.
Zhang X, Brody JA, Graff M, Highland HM, Chami N, Xu H, Wang Z, Ferrier K, Chittoor G, Josyula NS, Li X, Li Z, Allison MA, Becker DM, Bielak LF, Bis JC, Boorgula MP, Bowden DW, Broome JG, Buth EJ, Carlson CS, Chang KM, Chavan S, Chiu YF, Chuang LM, Conomos MP, DeMeo DL, Du M, Duggirala R, Eng C, Fohner AE, Freedman BI, Garrett ME, Guo X, Haiman C, Heavner BD, Hidalgo B, Hixson JE, Ho YL, Hobbs BD, Hu D, Hui Q, Hwu CM, Jackson RD, Jain D, Kalyani RR, Kardia SLR, Kelly TN, Lange EM, LeNoir M, Li C, Marchand LL, McDonald MN, McHugh CP, Morrison AC, Naseri T; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; O'Connell J, O'Donnell CJ, Palmer ND, Pankow JS, Perry JA, Peters U, Preuss MH, Rao DC, Regan EA, Reupena SM, Roden DM, Rodriguez-Santana J, Sitlani CM, Smith JA, Tiwari HK, Vasan RS, Wang Z, Weeks DE, Wessel J, Wiggins KL, Wilkens LR, Wilson PWF, Yanek LR, Yoneda ZT, Zhao W, Zöllner S, Arnett DK, Ashley-Koch AE, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Carson AP, Chasman DI, Chen YI, Curran JE, Fornage M, Gordeuk VR, He J, Heckbert SR, Hou L, Irvin MR, Kooperberg C, Minster RL, Mitchell BD, Nouraie M, Psaty BM, Raffield LM, Reiner AP, Rich SS, Rotter JI, Shoe… See abstract for full author list ➔ Zhang X, et al. medRxiv [Preprint]. 2023 Aug 22:2023.08.21.23293271. doi: 10.1101/2023.08.21.23293271. medRxiv. 2023. PMID: 37662265 Free PMC article. Preprint.
55 results