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Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby EG, England E, Wood JC, Son RG, Watts NA, Karczewski KJ, Harrison SM, MacArthur DG, Rehm HL, O'Donnell-Luria A. Singer-Berk M, et al. Among authors: karczewski kj. Am J Hum Genet. 2023 Sep 7;110(9):1496-1508. doi: 10.1016/j.ajhg.2023.08.005. Epub 2023 Aug 25. Am J Hum Genet. 2023. PMID: 37633279 Free PMC article.
Mendelian randomization of blood lipids for coronary heart disease.
Holmes MV, Asselbergs FW, Palmer TM, Drenos F, Lanktree MB, Nelson CP, Dale CE, Padmanabhan S, Finan C, Swerdlow DI, Tragante V, van Iperen EP, Sivapalaratnam S, Shah S, Elbers CC, Shah T, Engmann J, Giambartolomei C, White J, Zabaneh D, Sofat R, McLachlan S; UCLEB consortium; Doevendans PA, Balmforth AJ, Hall AS, North KE, Almoguera B, Hoogeveen RC, Cushman M, Fornage M, Patel SR, Redline S, Siscovick DS, Tsai MY, Karczewski KJ, Hofker MH, Verschuren WM, Bots ML, van der Schouw YT, Melander O, Dominiczak AF, Morris R, Ben-Shlomo Y, Price J, Kumari M, Baumert J, Peters A, Thorand B, Koenig W, Gaunt TR, Humphries SE, Clarke R, Watkins H, Farrall M, Wilson JG, Rich SS, de Bakker PI, Lange LA, Davey Smith G, Reiner AP, Talmud PJ, Kivimäki M, Lawlor DA, Dudbridge F, Samani NJ, Keating BJ, Hingorani AD, Casas JP. Holmes MV, et al. Among authors: karczewski kj. Eur Heart J. 2015 Mar 1;36(9):539-50. doi: 10.1093/eurheartj/eht571. Epub 2014 Jan 27. Eur Heart J. 2015. PMID: 24474739 Free PMC article.
Chapter 7: Pharmacogenomics.
Karczewski KJ, Daneshjou R, Altman RB. Karczewski KJ, et al. PLoS Comput Biol. 2012;8(12):e1002817. doi: 10.1371/journal.pcbi.1002817. Epub 2012 Dec 27. PLoS Comput Biol. 2012. PMID: 23300409 Free PMC article.
Regulatory variation within and between species.
Zheng W, Gianoulis TA, Karczewski KJ, Zhao H, Snyder M. Zheng W, et al. Among authors: karczewski kj. Annu Rev Genomics Hum Genet. 2011;12:327-46. doi: 10.1146/annurev-genom-082908-150139. Annu Rev Genomics Hum Genet. 2011. PMID: 21721942 Review.
Genomewide Association Study of Severe Covid-19 with Respiratory Failure.
Severe Covid-19 GWAS Group; Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, Fernández J, Prati D, Baselli G, Asselta R, Grimsrud MM, Milani C, Aziz F, Kässens J, May S, Wendorff M, Wienbrandt L, Uellendahl-Werth F, Zheng T, Yi X, de Pablo R, Chercoles AG, Palom A, Garcia-Fernandez AE, Rodriguez-Frias F, Zanella A, Bandera A, Protti A, Aghemo A, Lleo A, Biondi A, Caballero-Garralda A, Gori A, Tanck A, Carreras Nolla A, Latiano A, Fracanzani AL, Peschuck A, Julià A, Pesenti A, Voza A, Jiménez D, Mateos B, Nafria Jimenez B, Quereda C, Paccapelo C, Gassner C, Angelini C, Cea C, Solier A, Pestaña D, Muñiz-Diaz E, Sandoval E, Paraboschi EM, Navas E, García Sánchez F, Ceriotti F, Martinelli-Boneschi F, Peyvandi F, Blasi F, Téllez L, Blanco-Grau A, Hemmrich-Stanisak G, Grasselli G, Costantino G, Cardamone G, Foti G, Aneli S, Kurihara H, ElAbd H, My I, Galván-Femenia I, Martín J, Erdmann J, Ferrusquía-Acosta J, Garcia-Etxebarria K, Izquierdo-Sanchez L, Bettini LR, Sumoy L, Terranova L, Moreira L, Santoro L, Scudeller L, Mesonero F, Roade L, Rühlemann MC, Schaefer M, Carrabba M, Riveiro-Barciela M, Figuera Basso ME, Valsecchi MG, Hernandez-Tejero M, Acosta-Herrera M… See abstract for full author list ➔ Severe Covid-19 GWAS Group, et al. N Engl J Med. 2020 Oct 15;383(16):1522-1534. doi: 10.1056/NEJMoa2020283. Epub 2020 Jun 17. N Engl J Med. 2020. PMID: 32558485 Free PMC article.
Bioinformatics challenges for personalized medicine.
Fernald GH, Capriotti E, Daneshjou R, Karczewski KJ, Altman RB. Fernald GH, et al. Among authors: karczewski kj. Bioinformatics. 2011 Jul 1;27(13):1741-8. doi: 10.1093/bioinformatics/btr295. Epub 2011 May 19. Bioinformatics. 2011. PMID: 21596790 Free PMC article.
Variation in transcription factor binding among humans.
Kasowski M, Grubert F, Heffelfinger C, Hariharan M, Asabere A, Waszak SM, Habegger L, Rozowsky J, Shi M, Urban AE, Hong MY, Karczewski KJ, Huber W, Weissman SM, Gerstein MB, Korbel JO, Snyder M. Kasowski M, et al. Among authors: karczewski kj. Science. 2010 Apr 9;328(5975):232-5. doi: 10.1126/science.1183621. Epub 2010 Mar 18. Science. 2010. PMID: 20299548 Free PMC article.
124 results