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Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.
Kowalski MH, Qian H, Hou Z, Rosen JD, Tapia AL, Shan Y, Jain D, Argos M, Arnett DK, Avery C, Barnes KC, Becker LC, Bien SA, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Buyske S, Cai J, Cho MH, Choi SH, Choquet H, Cupples LA, Cushman M, Daya M, de Vries PS, Ellinor PT, Faraday N, Fornage M, Gabriel S, Ganesh SK, Graff M, Gupta N, He J, Heckbert SR, Hidalgo B, Hodonsky CJ, Irvin MR, Johnson AD, Jorgenson E, Kaplan R, Kardia SLR, Kelly TN, Kooperberg C, Lasky-Su JA, Loos RJF, Lubitz SA, Mathias RA, McHugh CP, Montgomery C, Moon JY, Morrison AC, Palmer ND, Pankratz N, Papanicolaou GJ, Peralta JM, Peyser PA, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith NL, Taylor KD, Thornton TA, Tiwari HK, Tracy RP, Wang T, Weiss ST, Weng LC, Wiggins KL, Wilson JG, Yanek LR, Zöllner S, North KE, Auer PL; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology & Hemostasis Working Group; Raffield LM, Reiner AP, Li Y. Kowalski MH, et al. PLoS Genet. 2019 Dec 23;15(12):e1008500. doi: 10.1371/journal.pgen.1008500. eCollection 2019 Dec. PLoS Genet. 2019. PMID: 31869403 Free PMC article.
The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts.
Lyon HN, Emilsson V, Hinney A, Heid IM, Lasky-Su J, Zhu X, Thorleifsson G, Gunnarsdottir S, Walters GB, Thorsteinsdottir U, Kong A, Gulcher J, Nguyen TT, Scherag A, Pfeufer A, Meitinger T, Brönner G, Rief W, Soto-Quiros ME, Avila L, Klanderman B, Raby BA, Silverman EK, Weiss ST, Laird N, Ding X, Groop L, Tuomi T, Isomaa B, Bengtsson K, Butler JL, Cooper RS, Fox CS, O'Donnell CJ, Vollmert C, Celedón JC, Wichmann HE, Hebebrand J, Stefansson K, Lange C, Hirschhorn JN. Lyon HN, et al. PLoS Genet. 2007 Apr 27;3(4):e61. doi: 10.1371/journal.pgen.0030061. Epub 2007 Mar 7. PLoS Genet. 2007. PMID: 17465681 Free PMC article.
ARG1 is a novel bronchodilator response gene: screening and replication in four asthma cohorts.
Litonjua AA, Lasky-Su J, Schneiter K, Tantisira KG, Lazarus R, Klanderman B, Lima JJ, Irvin CG, Peters SP, Hanrahan JP, Liggett SB, Hawkins GA, Meyers DA, Bleecker ER, Lange C, Weiss ST. Litonjua AA, et al. Am J Respir Crit Care Med. 2008 Oct 1;178(7):688-94. doi: 10.1164/rccm.200709-1363OC. Epub 2008 Jul 10. Am J Respir Crit Care Med. 2008. PMID: 18617639 Free PMC article.
Variants in TGFB1, dust mite exposure, and disease severity in children with asthma.
Sharma S, Raby BA, Hunninghake GM, Soto-Quirós M, Avila L, Murphy AJ, Lasky-Su J, Klanderman BJ, Sylvia JS, Weiss ST, Celedón JC. Sharma S, et al. Am J Respir Crit Care Med. 2009 Mar 1;179(5):356-62. doi: 10.1164/rccm.200808-1268OC. Epub 2008 Dec 18. Am J Respir Crit Care Med. 2009. PMID: 19096005 Free PMC article. Clinical Trial.
Assessing the reproducibility of asthma candidate gene associations, using genome-wide data.
Rogers AJ, Raby BA, Lasky-Su JA, Murphy A, Lazarus R, Klanderman BJ, Sylvia JS, Ziniti JP, Lange C, Celedón JC, Silverman EK, Weiss ST. Rogers AJ, et al. Am J Respir Crit Care Med. 2009 Jun 15;179(12):1084-90. doi: 10.1164/rccm.200812-1860OC. Epub 2009 Mar 5. Am J Respir Crit Care Med. 2009. PMID: 19264973 Free PMC article. Clinical Trial.
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.
Himes BE, Hunninghake GM, Baurley JW, Rafaels NM, Sleiman P, Strachan DP, Wilk JB, Willis-Owen SA, Klanderman B, Lasky-Su J, Lazarus R, Murphy AJ, Soto-Quiros ME, Avila L, Beaty T, Mathias RA, Ruczinski I, Barnes KC, Celedón JC, Cookson WO, Gauderman WJ, Gilliland FD, Hakonarson H, Lange C, Moffatt MF, O'Connor GT, Raby BA, Silverman EK, Weiss ST. Himes BE, et al. Am J Hum Genet. 2009 May;84(5):581-93. doi: 10.1016/j.ajhg.2009.04.006. Epub 2009 May 7. Am J Hum Genet. 2009. PMID: 19426955 Free PMC article.
241 results