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FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.
Hecker J, Chun S, Samiei A, Liu C, Laurie C, Kachroo P, Lutz SM, Lee S, Smith AV, Lasky-Su J, Cho MH, Sharma S, Soto Quirós ME, Avila L, Celedón JC, Raby B, Zhou X, Silverman EK, DeMeo DL; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Lange C, Weiss ST. Hecker J, et al. Among authors: chun s. Hum Mol Genet. 2023 Jan 27;32(4):696-707. doi: 10.1093/hmg/ddac258. Hum Mol Genet. 2023. PMID: 36255742 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Li X, Li Z, Zhou H, Gaynor SM, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Aslibekyan S, Ballantyne CM, Bielak LF, Blangero J, Boerwinkle E, Bowden DW, Broome JG, Conomos MP, Correa A, Cupples LA, Curran JE, Freedman BI, Guo X, Hindy G, Irvin MR, Kardia SLR, Kathiresan S, Khan AT, Kooperberg CL, Laurie CC, Liu XS, Mahaney MC, Manichaikul AW, Martin LW, Mathias RA, McGarvey ST, Mitchell BD, Montasser ME, Moore JE, Morrison AC, O'Connell JR, Palmer ND, Pampana A, Peralta JM, Peyser PA, Psaty BM, Redline S, Rice KM, Rich SS, Smith JA, Tiwari HK, Tsai MY, Vasan RS, Wang FF, Weeks DE, Weng Z, Wilson JG, Yanek LR; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Neale BM, Sunyaev SR, Abecasis GR, Rotter JI, Willer CJ, Peloso GM, Natarajan P, Lin X. Li X, et al. Nat Genet. 2020 Sep;52(9):969-983. doi: 10.1038/s41588-020-0676-4. Epub 2020 Aug 24. Nat Genet. 2020. PMID: 32839606 Free PMC article.
A Polygenic Risk Score for Idiopathic Pulmonary Fibrosis and Interstitial Lung Abnormalities.
Moll M, Peljto AL, Kim JS, Xu H, Debban CL, Chen X, Menon A, Putman RK, Ghosh AJ, Saferali A, Nishino M, Hatabu H, Hobbs BD, Hecker J, McDermott G, Sparks JA, Wain LV, Allen RJ, Tobin MD, Raby BA, Chun S, Silverman EK, Zamora AC, Ortega VE, Garcia CK, Barr RG, Bleecker ER, Meyers DA, Kaner RJ, Rich SS, Manichaikul A, Rotter JI, Dupuis J, O'Connor GT, Fingerlin TE, Hunninghake GM, Schwartz DA, Cho MH. Moll M, et al. Among authors: chun s. Am J Respir Crit Care Med. 2023 Oct 1;208(7):791-801. doi: 10.1164/rccm.202212-2257OC. Am J Respir Crit Care Med. 2023. PMID: 37523715
The missing link between genetic association and regulatory function.
Connally NJ, Nazeen S, Lee D, Shi H, Stamatoyannopoulos J, Chun S, Cotsapas C, Cassa CA, Sunyaev SR. Connally NJ, et al. Among authors: chun s. Elife. 2022 Dec 14;11:e74970. doi: 10.7554/eLife.74970. Elife. 2022. PMID: 36515579 Free PMC article.
Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits.
Chun S, Akle S, Teodosiadis A, Cade BE, Wang H, Sofer T, Evans DS, Stone KL, Gharib SA, Mukherjee S, Palmer LJ, Hillman D, Rotter JI, Hanis CL, Stamatoyannopoulos JA, Redline S, Cotsapas C, Sunyaev SR. Chun S, et al. PLoS Genet. 2022 Dec 27;18(12):e1010557. doi: 10.1371/journal.pgen.1010557. eCollection 2022 Dec. PLoS Genet. 2022. PMID: 36574455 Free PMC article.
Genome-wide patterns and properties of de novo mutations in humans.
Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, Renkens I; Genome of the Netherlands Consortium; van Duijn CM, Swertz M, Wijmenga C, van Ommen G, Slagboom PE, Boomsma DI, Ye K, Guryev V, Arndt PF, Kloosterman WP, de Bakker PIW, Sunyaev SR. Francioli LC, et al. Among authors: chun s. Nat Genet. 2015 Jul;47(7):822-826. doi: 10.1038/ng.3292. Epub 2015 May 18. Nat Genet. 2015. PMID: 25985141 Free PMC article.
1,826 results