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Page 1
Structural variation across 138,134 samples in the TOPMed consortium.
Jun G, English AC, Metcalf GA, Yang J, Chaisson MJ, Pankratz N, Menon VK, Salerno WJ, Krasheninina O, Smith AV, Lane JA, Blackwell T, Kang HM, Salvi S, Meng Q, Shen H, Pasham D, Bhamidipati S, Kottapalli K, Arnett DK, Ashley-Koch A, Auer PL, Beutel KM, Bis JC, Blangero J, Bowden DW, Brody JA, Cade BE, Chen YI, Cho MH, Curran JE, Fornage M, Freedman BI, Fingerlin T, Gelb BD, Hou L, Hung YJ, Kane JP, Kaplan R, Kim W, Loos RJF, Marcus GM, Mathias RA, McGarvey ST, Montgomery C, Naseri T, Nouraie SM, Preuss MH, Palmer ND, Peyser PA, Raffield LM, Ratan A, Redline S, Reupena S, Rotter JI, Rich SS, Rienstra M, Ruczinski I, Sankaran VG, Schwartz DA, Seidman CE, Seidman JG, Silverman EK, Smith JA, Stilp A, Taylor KD, Telen MJ, Weiss ST, Williams LK, Wu B, Yanek LR, Zhang Y, Lasky-Su J, Gingras MC, Dutcher SK, Eichler EE, Gabriel S, Germer S, Kim R, Viaud-Martinez KA, Nickerson DA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Luo J, Reiner A, Gibbs RA, Boerwinkle E, Abecasis G, Sedlazeck FJ. Jun G, et al. Among authors: menon vk. bioRxiv [Preprint]. 2023 Jan 25:2023.01.25.525428. doi: 10.1101/2023.01.25.525428. bioRxiv. 2023. PMID: 36747810 Free PMC article. Preprint.
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.
Modeling nonsegmented negative-strand RNA virus (NNSV) transcription with ejective polymerase collisions and biased diffusion.
Piedra FA, Henke D, Rajan A, Muzny DM, Doddapaneni H, Menon VK, Hoffman KL, Ross MC, Javornik Cregeen SJ, Metcalf G, Gibbs RA, Petrosino JF, Avadhanula V, Piedra PA. Piedra FA, et al. Among authors: menon vk. Front Mol Biosci. 2023 Jan 9;9:1095193. doi: 10.3389/fmolb.2022.1095193. eCollection 2022. Front Mol Biosci. 2023. PMID: 36699700 Free PMC article.
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
Weinstock JS, Gopakumar J, Burugula BB, Uddin MM, Jahn N, Belk JA, Bouzid H, Daniel B, Miao Z, Ly N, Mack TM, Luna SE, Prothro KP, Mitchell SR, Laurie CA, Broome JG, Taylor KD, Guo X, Sinner MF, von Falkenhausen AS, Kääb S, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Hou L, Lloyd-Jones DM, Redline S, Cade BE, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Palmer ND, Freedman BI, Bowden DW, Cho MH, DeMeo DL, Vasan RS, Yanek LR, Becker LC, Kardia SLR, Peyser PA, He J, Rienstra M, Van der Harst P, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Cutler MJ, Knight S, Muhlestein JB, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Tracy RP, Konkle BA, Johnsen JM, Wheeler MM, Smith JG, Melander O, Nilsson PM, Custer BS, Duggirala R, Curran JE, Blangero J, McGarvey S, Williams LK, Xiao S, Yang M, Gu CC, Chen YI, Lee WJ, Marcus GM, Kane JP, Pullinger CR, Shoemaker MB, Darbar D, Roden DM, Albert C, Kooperberg C, Zhou Y, Manson JE, Desai P, Johnson AD, Mathias RA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Blackwell TW, Abecasis GR, Smith AV, Kang HM, Satpathy A… See abstract for full author list ➔ Weinstock JS, et al. Nature. 2023 Apr;616(7958):755-763. doi: 10.1038/s41586-023-05806-1. Epub 2023 Apr 12. Nature. 2023. PMID: 37046083 Free PMC article.
Clonal haematopoiesis and risk of chronic liver disease.
Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C; NHLBI TOPMed Hematology Working Group; Ebert BL, Natarajan P. Wong WJ, et al. Nature. 2023 Apr;616(7958):747-754. doi: 10.1038/s41586-023-05857-4. Epub 2023 Apr 12. Nature. 2023. PMID: 37046084 Free PMC article.
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
Behera S, Belyeu JR, Chen X, Paulin LF, Nguyen NQH, Newman E, Mahmoud M, Menon VK, Qi Q, Joshi P, Marcovina S, Rossi M, Roller E, Han J, Onuchic V, Avery CL, Ballantyne CM, Rodriguez CJ, Kaplan RC, Muzny DM, Metcalf GA, Gibbs R, Yu B, Boerwinkle E, Eberle MA, Sedlazeck FJ. Behera S, et al. Among authors: menon vk. bioRxiv [Preprint]. 2023 Apr 27:2023.04.24.538128. doi: 10.1101/2023.04.24.538128. bioRxiv. 2023. PMID: 37163057 Free PMC article. Preprint.
Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study.
Holmstrom L, Chaudhary NS, Nakamura K, Chugh H, Uy-Evanado A, Norby F, Metcalf GA, Menon VK, Yu B, Boerwinkle E, Chugh SS, Akdemir Z, Kransdorf EP. Holmstrom L, et al. Among authors: menon vk. Circ Genom Precis Med. 2023 Aug;16(4):404-405. doi: 10.1161/CIRCGEN.123.004105. Epub 2023 May 17. Circ Genom Precis Med. 2023. PMID: 37194601 No abstract available.
Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load.
Avadhanula V, Creighton CJ, Ferlic-Stark L, Sucgang R, Zhang Y, Nagaraj D, Nicholson EG, Rajan A, Menon VK, Doddapaneni H, Muzny DM, Metcalf G, Cregeen SJJ, Hoffman KL, Gibbs RA, Petrosino J, Piedra PA. Avadhanula V, et al. Among authors: menon vk. bioRxiv [Preprint]. 2023 May 25:2023.05.24.542181. doi: 10.1101/2023.05.24.542181. bioRxiv. 2023. PMID: 37292999 Free PMC article. Preprint.
64 results