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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. Among authors: sun r. 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.
Identification of novel loci associated with infant cognitive ability.
Sun R, Wang Z, Claus Henn B, Su L, Lu Q, Lin X, Wright RO, Bellinger DC, Kile M, Mazumdar M, Tellez-Rojo MM, Schnaas L, Christiani DC. Sun R, et al. Mol Psychiatry. 2020 Nov;25(11):3010-3019. doi: 10.1038/s41380-018-0205-3. Epub 2018 Aug 17. Mol Psychiatry. 2020. PMID: 30120420 Free PMC article.
Identification of differentially expressed gene sets using the Generalized Berk-Jones statistic.
Gaynor SM, Sun R, Lin X, Quackenbush J. Gaynor SM, et al. Among authors: sun r. Bioinformatics. 2019 Nov 1;35(22):4568-4576. doi: 10.1093/bioinformatics/btz277. Bioinformatics. 2019. PMID: 31062858 Free PMC article.
AVAILABILITY AND IMPLEMENTATION: Data are in the MetaGxBreast R package. Code is available at github.com/ryanrsun/gaynor_sun_GBJ_breast_cancer. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online....
AVAILABILITY AND IMPLEMENTATION: Data are in the MetaGxBreast R package. Code is available at github.com/ryanrsun/gaynor_sun_G …
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.
Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer.
Sun R, Xu M, Li X, Gaynor S, Zhou H, Li Z, Bossé Y, Lam S, Tsao MS, Tardon A, Chen C, Doherty J, Goodman G, Bojesen SE, Landi MT, Johansson M, Field JK, Bickeböller H, Wichmann HE, Risch A, Rennert G, Arnold S, Wu X, Melander O, Brunnström H, Le Marchand L, Liu G, Andrew A, Duell E, Kiemeney LA, Shen H, Haugen A, Johansson M, Grankvist K, Caporaso N, Woll P, Dawn Teare M, Scelo G, Hong YC, Yuan JM, Lazarus P, Schabath MB, Aldrich MC, Albanes D, Mak R, Barbie D, Brennan P, Hung RJ, Amos CI, Christiani DC, Lin X. Sun R, et al. Genet Epidemiol. 2021 Feb;45(1):99-114. doi: 10.1002/gepi.22358. Epub 2020 Sep 14. Genet Epidemiol. 2021. PMID: 32924180 Free PMC article.
Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk.
Li Y, Xiao X, Li J, Byun J, Cheng C, Bossé Y, McKay J, Albanes D, Lam S, Tardon A, Chen C, Bojesen SE, Landi MT, Johansson M, Risch A, Bickeböller H, Wichmann HE, Christiani DC, Rennert G, Arnold S, Goodman G, Field JK, Davies MPA, Shete SS, Le Marchand L, Melander O, Brunnström H, Liu G, Hung RJ, Andrew AS, Kiemeney LA, Shen H, Sun R, Zienolddiny S, Grankvist K, Johansson M, Caporaso N, Teare DM, Hong YC, Lazarus P, Schabath MB, Aldrich MC, Schwartz AG, Gorlov I, Purrington K, Yang P, Liu Y, Han Y, Bailey-Wilson JE, Pinney SM, Mandal D, Willey JC, Gaba C, Brennan P, Amos CI; INTEGRAL-ILCCO lung cancer consortium. Li Y, et al. Among authors: sun r. Hum Mol Genet. 2022 Aug 23;31(16):2831-2843. doi: 10.1093/hmg/ddac030. Hum Mol Genet. 2022. PMID: 35138370 Free PMC article.
8,401 results