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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: mathias ra. 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.
Evidence for asthma susceptibility genes on chromosome 11 in an African-American population.
Huang SK, Mathias RA, Ehrlich E, Plunkett B, Liu X, Cutting GR, Wang XJ, Li XD, Togias A, Barnes KC, Malveaux F, Rich S, Mellen B, Lange E, Beaty TH; Comparative Study on the Genetics of Asthma. Huang SK, et al. Among authors: mathias ra. Hum Genet. 2003 Jul;113(1):71-5. doi: 10.1007/s00439-003-0934-4. Epub 2003 Mar 27. Hum Genet. 2003. PMID: 12664305
Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability.
Huang JL, Gao PS, Mathias RA, Yao TC, Chen LC, Kuo ML, Hsu SC, Plunkett B, Togias A, Barnes KC, Stellato C, Beaty TH, Huang SK. Huang JL, et al. Among authors: mathias ra. Hum Mol Genet. 2004 Nov 1;13(21):2691-7. doi: 10.1093/hmg/ddh279. Epub 2004 Sep 2. Hum Mol Genet. 2004. PMID: 15345705
Comparison of SNP tagging methods using empirical data: association study of 713 SNPs on chromosome 12q14.3-12q24.21 for asthma and total serum IgE in an African Caribbean population.
Chi PB, Duggal P, Kao WH, Mathias RA, Grant AV, Stockton ML, Garcia JG, Ingersoll RG, Scott AF, Beaty TH, Barnes KC, Fallin MD. Chi PB, et al. Among authors: mathias ra. Genet Epidemiol. 2006 Nov;30(7):609-19. doi: 10.1002/gepi.20172. Genet Epidemiol. 2006. PMID: 16830339
269 results