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'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate.
Fier H, Won S, Prokopenko D, AlChawa T, Ludwig KU, Fimmers R, Silverman EK, Pagano M, Mangold E, Lange C. Fier H, et al. Among authors: prokopenko d. Bioinformatics. 2012 Dec 1;28(23):3027-33. doi: 10.1093/bioinformatics/bts568. Epub 2012 Oct 8. Bioinformatics. 2012. PMID: 23044548 Free PMC article.
Whole-Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease.
Prokopenko D, Sakornsakolpat P, Fier HL, Qiao D, Parker MM, McDonald MN, Manichaikul A, Rich SS, Barr RG, Williams CJ, Brantly ML, Lange C, Beaty TH, Crapo JD, Silverman EK, Cho MH. Prokopenko D, et al. Am J Respir Cell Mol Biol. 2018 Nov;59(5):614-622. doi: 10.1165/rcmb.2018-0088OC. Am J Respir Cell Mol Biol. 2018. PMID: 29949718 Free PMC article.
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group. Zekavat SM, et al. Nat Commun. 2018 Jul 4;9(1):2606. doi: 10.1038/s41467-018-04668-w. Nat Commun. 2018. PMID: 29973585 Free PMC article.
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.
Qiao D, Ameli A, Prokopenko D, Chen H, Kho AT, Parker MM, Morrow J, Hobbs BD, Liu Y, Beaty TH, Crapo JD, Barnes KC, Nickerson DA, Bamshad M, Hersh CP, Lomas DA, Agusti A, Make BJ, Calverley PMA, Donner CF, Wouters EF, Vestbo J, Paré PD, Levy RD, Rennard SI, Tal-Singer R, Spitz MR, Sharma A, Ruczinski I, Lange C, Silverman EK, Cho MH. Qiao D, et al. Among authors: prokopenko d. Hum Mol Genet. 2018 Nov 1;27(21):3801-3812. doi: 10.1093/hmg/ddy269. Hum Mol Genet. 2018. PMID: 30060175 Free PMC article.
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
Natarajan P, Peloso GM, Zekavat SM, Montasser M, Ganna A, Chaffin M, Khera AV, Zhou W, Bloom JM, Engreitz JM, Ernst J, O'Connell JR, Ruotsalainen SE, Alver M, Manichaikul A, Johnson WC, Perry JA, Poterba T, Seed C, Surakka IL, Esko T, Ripatti S, Salomaa V, Correa A, Vasan RS, Kellis M, Neale BM, Lander ES, Abecasis G, Mitchell B, Rich SS, Wilson JG, Cupples LA, Rotter JI, Willer CJ, Kathiresan S; NHLBI TOPMed Lipids Working Group. Natarajan P, et al. Nat Commun. 2018 Aug 23;9(1):3391. doi: 10.1038/s41467-018-05747-8. Nat Commun. 2018. PMID: 30140000 Free PMC article.
Integrative Genomics Analysis Identifies ACVR1B as a Candidate Causal Gene of Emphysema Distribution.
Boueiz A, Pham B, Chase R, Lamb A, Lee S, Naing ZZC, Cho MH, Parker MM, Sakornsakolpat P, Hersh CP, Crapo JD, Stergachis AB, Tal-Singer R, DeMeo DL, Silverman EK, Zhou X, Castaldi PJ; COPDGene investigators, by Core Units:, ECLIPSE Investigators:, GenKOLS Investigators:. Boueiz A, et al. Am J Respir Cell Mol Biol. 2019 Apr;60(4):388-398. doi: 10.1165/rcmb.2018-0110OC. Am J Respir Cell Mol Biol. 2019. PMID: 30335480 Free PMC article.
80 results