Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
Cytochrome P-450 CYP2D6
/ genetics
Genetic Variation
/ genetics
Genome, Human
/ genetics
Genomics
Haplotypes
/ genetics
Heterozygote
Humans
INDEL Mutation
Loss of Function Mutation
Mutagenesis
National Heart, Lung, and Blood Institute (U.S.)
Phenotype
Polymorphism, Single Nucleotide
Population Density
Precision Medicine
/ standards
Quality Control
Sample Size
United States
Whole Genome Sequencing
/ standards
Journal
Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
06
03
2019
accepted:
07
01
2021
entrez:
11
2
2021
pubmed:
12
2
2021
medline:
10
3
2021
Statut:
ppublish
Résumé
The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial phases of the programme focused on whole-genome sequencing of individuals with rich phenotypic data and diverse backgrounds. Here we describe the TOPMed goals and design as well as the available resources and early insights obtained from the sequence data. The resources include a variant browser, a genotype imputation server, and genomic and phenotypic data that are available through dbGaP (Database of Genotypes and Phenotypes)
Identifiants
pubmed: 33568819
doi: 10.1038/s41586-021-03205-y
pii: 10.1038/s41586-021-03205-y
pmc: PMC7875770
mid: NIHMS1675193
doi:
Substances chimiques
Cytochrome P-450 CYP2D6
EC 1.14.14.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
290-299Subventions
Organisme : NHGRI NIH HHS
ID : R35 HG010692
Pays : United States
Organisme : NIEHS NIH HHS
ID : P30 ES010126
Pays : United States
Organisme : NHLBI NIH HHS
ID : P50 HL118006
Pays : United States
Organisme : NHGRI NIH HHS
ID : T32 HG000040
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL090620
Pays : United States
Organisme : NHLBI NIH HHS
ID : K08 HL141601
Pays : United States
Organisme : NHLBI NIH HHS
ID : K24 HL148521
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL111314
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI132476
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL117626
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL131565
Pays : United States
Organisme : NHLBI NIH HHS
ID : P01 HL132825
Pays : United States
Organisme : NIDA NIH HHS
ID : R01 DA044283
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL123915
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL120393
Pays : United States
Organisme : NHLBI NIH HHS
ID : R03 HL141439
Pays : United States
Organisme : NIA NIH HHS
ID : K01 AG059898
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL155742
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL120393
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK117445
Pays : United States
Organisme : NHLBI NIH HHS
ID : UH3 HL151865
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL163972
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR072199
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL142711
Pays : United States
Organisme : BLRD VA
ID : I01 BX005295
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL113326
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL137162
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG005701
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM075091
Pays : United States
Organisme : NHLBI NIH HHS
ID : T32 HL007085
Pays : United States
Organisme : NIDA NIH HHS
ID : R01 DA037904
Pays : United States
Organisme : NHLBI NIH HHS
ID : R21 HL123677
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK020572
Pays : United States
Organisme : NHLBI NIH HHS
ID : R03 HL154284
Pays : United States
Organisme : NIMHD NIH HHS
ID : R01 MD012765
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA182913
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG009088
Pays : United States
Organisme : NIDDK NIH HHS
ID : UM1 DK078616
Pays : United States
Organisme : NHLBI NIH HHS
ID : UG3 HL151865
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL149836
Pays : United States
Organisme : NHLBI NIH HHS
ID : K01 HL135405
Pays : United States
Investigateurs
Namiko Abe
(N)
Laura Almasy
(L)
Seth Ament
(S)
Peter Anderson
(P)
Pramod Anugu
(P)
Deborah Applebaum-Bowden
(D)
Tim Assimes
(T)
Dimitrios Avramopoulos
(D)
Emily Barron-Casella
(E)
Terri Beaty
(T)
Gerald Beck
(G)
Diane Becker
(D)
Amber Beitelshees
(A)
Takis Benos
(T)
Marcos Bezerra
(M)
Joshua Bis
(J)
Russell Bowler
(R)
Ulrich Broeckel
(U)
Jai Broome
(J)
Karen Bunting
(K)
Carlos Bustamante
(C)
Erin Buth
(E)
Jonathan Cardwell
(J)
Vincent Carey
(V)
Cara Carty
(C)
Richard Casaburi
(R)
Peter Castaldi
(P)
Mark Chaffin
(M)
Christy Chang
(C)
Yi-Cheng Chang
(YC)
Sameer Chavan
(S)
Bo-Juen Chen
(BJ)
Wei-Min Chen
(WM)
Lee-Ming Chuang
(LM)
Ren-Hua Chung
(RH)
Suzy Comhair
(S)
Elaine Cornell
(E)
Carolyn Crandall
(C)
James Crapo
(J)
Jeffrey Curtis
(J)
Coleen Damcott
(C)
Sean David
(S)
Colleen Davis
(C)
Lisa de Las Fuentes
(LL)
Michael DeBaun
(M)
Ranjan Deka
(R)
Scott Devine
(S)
Qing Duan
(Q)
Ravi Duggirala
(R)
Jon Peter Durda
(JP)
Charles Eaton
(C)
Lynette Ekunwe
(L)
Adel El Boueiz
(A)
Serpil Erzurum
(S)
Charles Farber
(C)
Matthew Flickinger
(M)
Myriam Fornage
(M)
Chris Frazar
(C)
Mao Fu
(M)
Lucinda Fulton
(L)
Shanshan Gao
(S)
Yan Gao
(Y)
Margery Gass
(M)
Bruce Gelb
(B)
Xiaoqi Priscilla Geng
(XP)
Mark Geraci
(M)
Auyon Ghosh
(A)
Chris Gignoux
(C)
David Glahn
(D)
Da-Wei Gong
(DW)
Harald Goring
(H)
Sharon Graw
(S)
Daniel Grine
(D)
C Charles Gu
(CC)
Yue Guan
(Y)
Namrata Gupta
(N)
Jeff Haessler
(J)
Nicola L Hawley
(NL)
Ben Heavner
(B)
David Herrington
(D)
Craig Hersh
(C)
Bertha Hidalgo
(B)
James Hixson
(J)
Brian Hobbs
(B)
John Hokanson
(J)
Elliott Hong
(E)
Karin Hoth
(K)
Chao Agnes Hsiung
(CA)
Yi-Jen Hung
(YJ)
Haley Huston
(H)
Chii Min Hwu
(CM)
Rebecca Jackson
(R)
Deepti Jain
(D)
Min A Jhun
(MA)
Craig Johnson
(C)
Rich Johnston
(R)
Kimberly Jones
(K)
Sekar Kathiresan
(S)
Alyna Khan
(A)
Wonji Kim
(W)
Greg Kinney
(G)
Holly Kramer
(H)
Christoph Lange
(C)
Ethan Lange
(E)
Leslie Lange
(L)
Cecelia Laurie
(C)
Meryl LeBoff
(M)
Jiwon Lee
(J)
Seunggeun Shawn Lee
(SS)
Wen-Jane Lee
(WJ)
David Levine
(D)
Joshua Lewis
(J)
Xiaohui Li
(X)
Yun Li
(Y)
Henry Lin
(H)
Honghuang Lin
(H)
Keng Han Lin
(KH)
Simin Liu
(S)
Yongmei Liu
(Y)
Yu Liu
(Y)
James Luo
(J)
Michael Mahaney
(M)
Barry Make
(B)
JoAnn Manson
(J)
Lauren Margolin
(L)
Lisa Martin
(L)
Susan Mathai
(S)
Susanne May
(S)
Patrick McArdle
(P)
Merry-Lynn McDonald
(ML)
Sean McFarland
(S)
Daniel McGoldrick
(D)
Caitlin McHugh
(C)
Hao Mei
(H)
Luisa Mestroni
(L)
Nancy Min
(N)
Ryan L Minster
(RL)
Matt Moll
(M)
Arden Moscati
(A)
Solomon Musani
(S)
Stanford Mwasongwe
(S)
Josyf C Mychaleckyj
(JC)
Girish Nadkarni
(G)
Rakhi Naik
(R)
Take Naseri
(T)
Sergei Nekhai
(S)
Bonnie Neltner
(B)
Heather Ochs-Balcom
(H)
David Paik
(D)
James Pankow
(J)
Afshin Parsa
(A)
Juan Manuel Peralta
(JM)
Marco Perez
(M)
James Perry
(J)
Ulrike Peters
(U)
Lawrence S Phillips
(LS)
Toni Pollin
(T)
Julia Powers Becker
(JP)
Meher Preethi Boorgula
(MP)
Michael Preuss
(M)
Dandi Qiao
(D)
Zhaohui Qin
(Z)
Nicholas Rafaels
(N)
Laura Raffield
(L)
Laura Rasmussen-Torvik
(L)
Aakrosh Ratan
(A)
Robert Reed
(R)
Elizabeth Regan
(E)
Muagututi'a Sefuiva Reupena
(MS)
Carolina Roselli
(C)
Pamela Russell
(P)
Sarah Ruuska
(S)
Kathleen Ryan
(K)
Ester Cerdeira Sabino
(EC)
Danish Saleheen
(D)
Shabnam Salimi
(S)
Steven Salzberg
(S)
Kevin Sandow
(K)
Vijay G Sankaran
(VG)
Christopher Scheller
(C)
Ellen Schmidt
(E)
Karen Schwander
(K)
Frank Sciurba
(F)
Christine Seidman
(C)
Jonathan Seidman
(J)
Stephanie L Sherman
(SL)
Aniket Shetty
(A)
Wayne Hui-Heng Sheu
(WH)
Brian Silver
(B)
Josh Smith
(J)
Tanja Smith
(T)
Sylvia Smoller
(S)
Beverly Snively
(B)
Michael Snyder
(M)
Tamar Sofer
(T)
Garrett Storm
(G)
Elizabeth Streeten
(E)
Yun Ju Sung
(YJ)
Jody Sylvia
(J)
Adam Szpiro
(A)
Carole Sztalryd
(C)
Hua Tang
(H)
Margaret Taub
(M)
Matthew Taylor
(M)
Simeon Taylor
(S)
Machiko Threlkeld
(M)
Lesley Tinker
(L)
David Tirschwell
(D)
Sarah Tishkoff
(S)
Hemant Tiwari
(H)
Catherine Tong
(C)
Michael Tsai
(M)
Dhananjay Vaidya
(D)
Peter VandeHaar
(P)
Tarik Walker
(T)
Robert Wallace
(R)
Avram Walts
(A)
Fei Fei Wang
(FF)
Heming Wang
(H)
Karol Watson
(K)
Jennifer Wessel
(J)
Kayleen Williams
(K)
L Keoki Williams
(LK)
Carla Wilson
(C)
Joseph Wu
(J)
Huichun Xu
(H)
Lisa Yanek
(L)
Ivana Yang
(I)
Rongze Yang
(R)
Norann Zaghloul
(N)
Maryam Zekavat
(M)
Snow Xueyan Zhao
(SX)
Wei Zhao
(W)
Degui Zhi
(D)
Xiang Zhou
(X)
Xiaofeng Zhu
(X)
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