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Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.
Li X, Quick C, Zhou H, Gaynor SM, Liu Y, Chen H, Selvaraj MS, Sun R, Dey R, Arnett DK, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Freedman BI, Göring HHH, Guo X, Haessler J, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Manichaikul A, Martin LW, McGarvey ST, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Sitlani CM, Smith JA, Taylor KD, Vasan RS, Willer CJ, Wilson JG, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lipids Working Group; Rotter JI, Natarajan P, Peloso GM, Li Z, Lin X. Li X, et al. Nat Genet. 2023 Jan;55(1):154-164. doi: 10.1038/s41588-022-01225-6. Epub 2022 Dec 23. Nat Genet. 2023. PMID: 36564505 Free PMC article.
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.
Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MS, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Auer PL, Bielak LF, Bis JC, Blackwell TW, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Conomos MP, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Franceschini N, Freedman BI, Göring HHH, Guo X, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Lin BM, Manichaikul A, Manning AK, Martin LW, Mathias RA, Meigs JB, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Smith JA, Taylor KD, Taub MA, Vasan RS, Weeks DE, Wilson JG, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Rotter JI, Willer CJ, Natarajan P, Peloso GM, Lin X. Li Z, et al. Nat Methods. 2022 Dec;19(12):1599-1611. doi: 10.1038/s41592-022-01640-x. Epub 2022 Oct 27. Nat Methods. 2022. PMID: 36303018 Free PMC article.
Returning incidentally discovered Hepatitis C RNA-seq results to COPDGene study participants.
Silverman EK, Kim AY, Make BJ, Regan EA, Morrow JD, Hersh CP, O'Brien J, Crapo JD, Hansel NN, Criner G, Flenaugh EL, Conrad D, Casaburi R, Bowler RP, Hanania NA, Barr RG, Bhatt SP, Sciurba FC, Anzueto A, Han MK, McEvoy CE, Comellas AP, DeMeo DL, Rosiello R, Curtis JL, Uchida T, Wilson C, O'Rourke PP. Silverman EK, et al. NPJ Genom Med. 2023 Oct 31;8(1):36. doi: 10.1038/s41525-023-00379-4. NPJ Genom Med. 2023. PMID: 37903807 Free PMC article.
Paging the Clinical Informatics Community: Respond STAT to Dobbs v. Jackson's Women's Health Organization.
Arvisais-Anhalt S, Ravi A, Weia B, Aarts J, Ahmad HB, Araj E, Bauml JA, Benham-Hutchins M, Boyd AD, Brecht-Doscher A, Butler-Henderson K, Butte AJ, Cardilo AB, Chilukuri N, Cho MK, Cohen JK, Craven CK, Crusco S, Dadabhoy F, Dash D, DeBolt C, Elkin PL, Fayanju OA, Fochtmann LJ, Graham JV, Hanna JJ, Hersh W, Hofford MR, Hron JD, Huang SS, Jackson BR, Kaplan B, Kelly W, Ko K, Koppel R, Kurapati N, Labbad G, Lee JJ, Lehmann CU, Leitner S, Liao ZC, Medford RJ, Melnick ER, Muniyappa AN, Murray SG, Neinstein AB, Nichols-Johnson V, Novak LL, Ogan WS, Ozeran L, Pageler NM, Pandita D, Perumbeti A, Petersen C, Pierce L, Puttagunta R, Ramaswamy P, Rogers KM, Rosenbloom ST, Ryan A, Saleh S, Sarabu C, Schreiber R, Shaw KA, Sim I, Sirintrapun SJ, Solomonides A, Spector JD, Starren JB, Stoffel M, Subbian V, Swanson K, Tomes A, Trang K, Unertl KM, Weon JL, Whooley MA, Wiley K, Williamson DFK, Winkelstein P, Wong J, Xie J, Yarahuan JKW, Yung N, Zera C, Ratanawongsa N, Sadasivaiah S. Arvisais-Anhalt S, et al. Appl Clin Inform. 2023 Jan;14(1):164-171. doi: 10.1055/a-2000-7590. Epub 2022 Dec 19. Appl Clin Inform. 2023. PMID: 36535703 Free PMC article. No abstract available.
Cross-Sectional Associations Among Symptoms of Pain, Irritability, and Depression and How These Symptoms Relate to Social Functioning and Quality of Life: Findings From the EMBARC and STRIDE Studies and the VitalSign6 Project.
Jha MK, Schatzberg A, Minhajuddin A, Chin Fatt C, Mayes TL, Trivedi MH. Jha MK, et al. J Clin Psychiatry. 2021 Apr 13;82(3):20m13740. doi: 10.4088/JCP.20m13740. J Clin Psychiatry. 2021. PMID: 34000130 Free PMC article. Clinical Trial.