Pubmed ID: 33568819

Pubmed Central ID: PMC7875770

Journal: Nature

Publication Date: Feb. 1, 2021

MeSH Terms: Humans, United States, Heterozygote, Haplotypes, Polymorphism, Single Nucleotide, Sample Size, Phenotype, Genome, Human, Mutagenesis, Quality Control, Genetic Variation, National Heart, Lung, and Blood Institute (U.S.), Genomics, Precision Medicine, Loss of Function Mutation, Cytochrome P-450 CYP2D6, INDEL Mutation, Population Density, Whole Genome Sequencing

Grants: P50 HL118006, R01 HL120393, R21 HL123677, P30 DK020572, U01 HL120393, R01 HL117626, R01 HL113326, P30 ES010126, T32 HG000040, R01 AI132476, U01 HG009088, HHSN268201800001C, R01 DA037904, K01 HL135405, R01 HL142711, R03 HL154284, R35 HG010692, K08 HL141601, K24 HL148521, R01 HL131565, R01 DA044283, R01 HL123915, R03 HL141439, K01 AG059898, R01 HL155742, R01 DK117445, R01 HG005701, T32 HL007085, R01 MD012765, UM1 DK078616, UG3 HL151865, R01 HL149836, U01 CA182913, R01 HL163972, R01 AR072199, I01 BX005295, U01 HL137162, R01 HL090620, R01 HL111314, UH3 HL151865

Authors: Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, Pitsillides AN, LeFaive J, Lee SB, Tian X, Browning BL, Das S, Emde AK, Clarke WE, Loesch DP, Shetty AC, Blackwell TW, Smith AV, Wong Q, Liu X, Conomos MP, Bobo DM, Aguet F, Albert C, Alonso A, Ardlie KG, Arking DE, Aslibekyan S, Auer PL, Barnard J, Barr RG, Barwick L, Becker LC, Beer RL, Benjamin EJ, Bielak LF, Blangero J, Boehnke M, Bowden DW, Brody JA, Burchard EG, Cade BE, Casella JF, Chalazan B, Chasman DI, Chen YI, Cho MH, Choi SH, Chung MK, Clish CB, Correa A, Curran JE, Custer B, Darbar D, Daya M, de Andrade M, DeMeo DL, Dutcher SK, Ellinor PT, Emery LS, Eng C, Fatkin D, Fingerlin T, Forer L, Fornage M, Franceschini N, Fuchsberger C, Fullerton SM, Germer S, Gladwin MT, Gottlieb DJ, Guo X, Hall ME, He J, Heard-Costa NL, Heckbert SR, Irvin MR, Johnsen JM, Johnson AD, Kaplan R, Kardia SLR, Kelly T, Kelly S, Kenny EE, Kiel DP, Klemmer R, Konkle BA, Kooperberg C, Köttgen A, Lange LA, Lasky-Su J, Levy D, Lin X, Lin KH, Liu C, Loos RJF, Garman L, Gerszten R, Lubitz SA, Lunetta KL, Mak ACY, Manichaikul A, Manning AK, Mathias RA, McManus DD, McGarvey ST, Meigs JB, Meyers DA, Mikulla JL, Minear MA, Mitchell BD, Mohanty S, Montasser ME, Montgomery C, Morrison AC, Murabito JM, Natale A, Natarajan P, Nelson SC, North KE, O'Connell JR, Palmer ND, Pankratz N, Peloso GM, Peyser PA, Pleiness J, Post WS, Psaty BM, Rao DC, Redline S, Reiner AP, Roden D, Rotter JI, Ruczinski I, Sarnowski C, Schoenherr S, Schwartz DA, Seo JS, Seshadri S, Sheehan VA, Sheu WH, Shoemaker MB, Smith NL, Smith JA, Sotoodehnia N, Stilp AM, Tang W, Taylor KD, Telen M, Thornton TA, Tracy RP, Van Den Berg DJ, Vasan RS, Viaud-Martinez KA, Vrieze S, Weeks DE, Weir BS, Weiss ST, Weng LC, Willer CJ, Zhang Y, Zhao X, Arnett DK, Ashley-Koch AE, Barnes KC, Boerwinkle E, Gabriel S, Gibbs R, Rice KM, Rich SS, Silverman EK, Qasba P, Gan W, Papanicolaou GJ, Nickerson DA, Browning SR, Zody MC, Zöllner S, Wilson JG, Cupples LA, Laurie CC, Jaquish CE, Hernandez RD, O'Connor TD, Abecasis GR, Abe N, Almasy L, Ament S, Anderson P, Anugu P, Applebaum-Bowden D, Assimes T, Avramopoulos D, Barron-Casella E, Beaty T, Beck G, Becker D, Beitelshees A, Benos T, Bezerra M, Bis J, Bowler R, Broeckel U, Broome J, Bunting K, Bustamante C, Buth E, Cardwell J, Carey V, Carty C, Casaburi R, Castaldi P, Chaffin M, Chang C, Chang YC, Chavan S, Chen BJ, Chen WM, Chuang LM, Chung RH, Comhair S, Cornell E, Crandall C, Crapo J, Curtis J, Damcott C, David S, Davis C, Fuentes LL, DeBaun M, Deka R, Devine S, Duan Q, Duggirala R, Durda JP, Eaton C, Ekunwe L, El Boueiz A, Erzurum S, Farber C, Flickinger M, Fornage M, Frazar C, Fu M, Fulton L, Gao S, Gao Y, Gass M, Gelb B, Geng XP, Geraci M, Ghosh A, Gignoux C, Glahn D, Gong DW, Goring H, Graw S, Grine D, Gu CC, Guan Y, Gupta N, Haessler J, Hawley NL, Heavner B, Herrington D, Hersh C, Hidalgo B, Hixson J, Hobbs B, Hokanson J, Hong E, Hoth K, Hsiung CA, Hung YJ, Huston H, Hwu CM, Jackson R, Jain D, Jhun MA, Johnson C, Johnston R, Jones K, Kathiresan S, Khan A, Kim W, Kinney G, Kramer H, Lange C, Lange E, Lange L, Laurie C, LeBoff M, Lee J, Lee SS, Lee WJ, Levine D, Lewis J, Li X, Li Y, Lin H, Lin H, Lin KH, Liu S, Liu Y, Liu Y, Luo J, Mahaney M, Make B, Manson J, Margolin L, Martin L, Mathai S, May S, McArdle P, McDonald ML, McFarland S, McGoldrick D, McHugh C, Mei H, Mestroni L, Min N, Minster RL, Moll M, Moscati A, Musani S, Mwasongwe S, Mychaleckyj JC, Nadkarni G, Naik R, Naseri T, Nekhai S, Neltner B, Ochs-Balcom H, Paik D, Pankow J, Parsa A, Peralta JM, Perez M, Perry J, Peters U, Phillips LS, Pollin T, Becker JP, Boorgula MP, Preuss M, Qiao D, Qin Z, Rafaels N, Raffield L, Rasmussen-Torvik L, Ratan A, Reed R, Regan E, Reupena MS, Roselli C, Russell P, Ruuska S, Ryan K, Sabino EC, Saleheen D, Salimi S, Salzberg S, Sandow K, Sankaran VG, Scheller C, Schmidt E, Schwander K, Sciurba F, Seidman C, Seidman J, Sherman SL, Shetty A, Sheu WH, Silver B, Smith J, Smith T, Smoller S, Snively B, Snyder M, Sofer T, Storm G, Streeten E, Sung YJ, Sylvia J, Szpiro A, Sztalryd C, Tang H, Taub M, Taylor M, Taylor S, Threlkeld M, Tinker L, Tirschwell D, Tishkoff S, Tiwari H, Tong C, Tsai M, Vaidya D, VandeHaar P, Walker T, Wallace R, Walts A, Wang FF, Wang H, Watson K, Wessel J, Williams K, Williams LK, Wilson C, Wu J, Xu H, Yanek L, Yang I, Yang R, Zaghloul N, Zekavat M, Zhao SX, Zhao W, Zhi D, Zhou X, Zhu X

Cite As: Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, Pitsillides AN, LeFaive J, Lee SB, Tian X, Browning BL, Das S, Emde AK, Clarke WE, Loesch DP, Shetty AC, Blackwell TW, Smith AV, Wong Q, Liu X, Conomos MP, Bobo DM, Aguet F, Albert C, Alonso A, Ardlie KG, Arking DE, Aslibekyan S, Auer PL, Barnard J, Barr RG, Barwick L, Becker LC, Beer RL, Benjamin EJ, Bielak LF, Blangero J, Boehnke M, Bowden DW, Brody JA, Burchard EG, Cade BE, Casella JF, Chalazan B, Chasman DI, Chen YI, Cho MH, Choi SH, Chung MK, Clish CB, Correa A, Curran JE, Custer B, Darbar D, Daya M, de Andrade M, DeMeo DL, Dutcher SK, Ellinor PT, Emery LS, Eng C, Fatkin D, Fingerlin T, Forer L, Fornage M, Franceschini N, Fuchsberger C, Fullerton SM, Germer S, Gladwin MT, Gottlieb DJ, Guo X, Hall ME, He J, Heard-Costa NL, Heckbert SR, Irvin MR, Johnsen JM, Johnson AD, Kaplan R, Kardia SLR, Kelly T, Kelly S, Kenny EE, Kiel DP, Klemmer R, Konkle BA, Kooperberg C, Köttgen A, Lange LA, Lasky-Su J, Levy D, Lin X, Lin KH, Liu C, Loos RJF, Garman L, Gerszten R, Lubitz SA, Lunetta KL, Mak ACY, Manichaikul A, Manning AK, Mathias RA, McManus DD, McGarvey ST, Meigs JB, Meyers DA, Mikulla JL, Minear MA, Mitchell BD, Mohanty S, Montasser ME, Montgomery C, Morrison AC, Murabito JM, Natale A, Natarajan P, Nelson SC, North KE, O'Connell JR, Palmer ND, Pankratz N, Peloso GM, Peyser PA, Pleiness J, Post WS, Psaty BM, Rao DC, Redline S, Reiner AP, Roden D, Rotter JI, Ruczinski I, Sarnowski C, Schoenherr S, Schwartz DA, Seo JS, Seshadri S, Sheehan VA, Sheu WH, Shoemaker MB, Smith NL, Smith JA, Sotoodehnia N, Stilp AM, Tang W, Taylor KD, Telen M, Thornton TA, Tracy RP, Van Den Berg DJ, Vasan RS, Viaud-Martinez KA, Vrieze S, Weeks DE, Weir BS, Weiss ST, Weng LC, Willer CJ, Zhang Y, Zhao X, Arnett DK, Ashley-Koch AE, Barnes KC, Boerwinkle E, Gabriel S, Gibbs R, Rice KM, Rich SS, Silverman EK, Qasba P, Gan W, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Papanicolaou GJ, Nickerson DA, Browning SR, Zody MC, Zöllner S, Wilson JG, Cupples LA, Laurie CC, Jaquish CE, Hernandez RD, O'Connor TD, Abecasis GR. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature 2021 Feb;590(7845):290-299. Epub 2021 Feb 10.

Studies:

• A Case Controlled Etiologic Study of Sarcoidosis (ACCESS)