A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies.
(2023 Nov 2)
bioRxiv
Li X, Chen H, Selvaraj MS, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Carson AP, Carlson JC, Chami N, Chen YI, Curran JE, de Vries PS, Fornage M, Franceschini N, Freedman BI, Gu C, Heard-Costa NL, He J, Hou L, Hung YJ, Irvin MR, Kaplan RC, Kardia SLR, Kelly T, Konigsberg I, Kooperberg C, Kral BG, Li C, Loos RJF, Mahaney MC, Martin LW, Mathias RA, Minster RL, Mitchell BD, Montasser ME, Morrison AC, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Rich SS, Sitlani CM, Smith JA, Taylor KD, Tiwari H, Vasan RS, Wang Z, Yanek LR, Yu B, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Rice KM, Rotter JI, Peloso GM, Natarajan P, Li Z, Liu Z, Lin X

Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing.
(2023 Nov)
Nat Genet 55(11): 1912-1919
Jakubek YA, Zhou Y, Stilp A, Bacon J, Wong JW, Ozcan Z, Arnett D, Barnes K, Bis JC, Boerwinkle E, Brody JA, Carson AP, Chasman DI, Chen J, Cho M, Conomos MP, Cox N, Doyle MF, Fornage M, Guo X, Kardia SLR, Lewis JP, Loos RJF, Ma X, Machiela MJ, Mack TM, Mathias RA, Mitchell BD, Mychaleckyj JC, North K, Pankratz N, Peyser PA, Preuss MH, Psaty B, Raffield LM, Vasan RS, Redline S, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith AP, Taub M, Taylor KD, Yun J, Li Y, Desai P, Bick AG, Reiner AP, Scheet P, Auer PL

Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk.
(2023 Oct 17)
J Am Heart Assoc 12(20): e029090
Liu X, Sun X, Zhang Y, Jiang W, Lai M, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, Haessler J, Zheng Y, Blackwell TW, Yao J, Guo X, Qian Y, Thyagarajan B, Pankratz N, Rich SS, Taylor KD, Peyser PA, Heckbert SR, Seshadri S, Boerwinkle E, Grove ML, Larson NB, Smith JA, Vasan RS, Fitzpatrick AL, Fornage M, Ding J, Carson AP, Abecasis G, Dupuis J, Reiner A, Kooperberg C, Hou L, Psaty BM, Wilson JG, Levy D, Rotter JI, Bis JC, TOPMed mtDNA Working Group in NHLBI Trans‐Omics for Precision Medicine (TOPMed) Consortium, Satizabal CL, Arking DE, Liu C

Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.
(2023 Oct 5)
Am J Hum Genet 110(10): 1704-1717
Wang Y, Selvaraj MS, Li X, Li Z, Holdcraft JA, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Cade BE, Carlson JC, Carson AP, Chen YI, Curran JE, de Vries PS, Dutcher SK, Ellinor PT, Floyd JS, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, Guo X, He J, Heard-Costa N, Hildalgo B, Hou L, Irvin MR, Joehanes R, Kaplan RC, Kardia SL, Kelly TN, Kim R, Kooperberg C, Kral BG, Levy D, Li C, Liu C, Lloyd-Jone D, Loos RJ, Mahaney MC, Martin LW, Mathias RA, Minster RL, Mitchell BD, Montasser ME, Morrison AC, Murabito JM, Naseri T, O'Connell JR, Palmer ND, Preuss MH, Psaty BM, Raffield LM, Rao DC, Redline S, Reiner AP, Rich SS, Ruepena MS, Sheu WH, Smith JA, Smith A, Tiwari HK, Tsai MY, Viaud-Martinez KA, Wang Z, Yanek LR, Zhao W, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Rotter JI, Lin X, Natarajan P, Peloso GM

Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium.
(2023 Sep 12)
bioRxiv
Jiang MZ, Gaynor SM, Li X, Van Buren E, Stilp A, Buth E, Wang FF, Manansala R, Gogarten SM, Li Z, Polfus LM, Salimi S, Bis JC, Pankratz N, Yanek LR, Durda P, Tracy RP, Rich SS, Rotter JI, Mitchell BD, Lewis JP, Psaty BM, Pratte KA, Silverman EK, Kaplan RC, Avery C, North K, Mathias RA, Faraday N, Lin H, Wang B, Carson AP, Norwood AF, Gibbs RA, Kooperberg C, Lundin J, Peters U, Dupuis J, Hou L, Fornage M, Benjamin EJ, Reiner AP, Bowler RP, Lin X, Auer PL, Raffield LM, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Inflammation Working Group