A structural variation reference for medical and population genetics.

Disease / genetics Female Genetic Testing Genetic Variation Genetics, Medical / standards Genetics, Population / standards Genome, Human / genetics Genotyping Techniques Humans Male Middle Aged Mutation Polymorphism, Single Nucleotide / genetics Racial Groups / genetics Reference Standards Selection, Genetic Whole Genome Sequencing

Journal

Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462

Informations de publication

Date de publication:
05 2020
Historique:
received: 02 03 2019
accepted: 31 03 2020
entrez: 29 5 2020
pubmed: 29 5 2020
medline: 1 9 2020
Statut: ppublish

Résumé

Structural variants (SVs) rearrange large segments of DNA

Identifiants

DOI: 10.1038/s41586-020-2287-8 PMID: 32461652 PMC: PMC7334194
pubmed: 32461652
doi: 10.1038/s41586-020-2287-8
pii: 10.1038/s41586-020-2287-8
pmc: PMC7334194
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

444-451

Subventions

Organisme : NICHD NIH HHS
ID : R03 HD099547
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC95169
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC95162
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC95168
Pays : United States
Organisme : NIDDK NIH HHS
ID : U01 DK078616
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC95167
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL071205
Pays : United States
Organisme : NIDDK NIH HHS
ID : UM1 DK078616
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC95166
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL071258
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD028138
Pays : United States
Organisme : NCRR NIH HHS
ID : UL1 RR033176
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201500003C
Pays : United States
Organisme : British Heart Foundation
ID : RG/18/10/33842
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : R01 MH115957
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC95160
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL071251
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL071259
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH104964
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC95163
Pays : United States
Organisme : British Heart Foundation
ID : CS/14/2/30841
Pays : United Kingdom
Organisme : NIDCR NIH HHS
ID : K99 DE026824
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG008895
Pays : United States
Organisme : NCATS NIH HHS
ID : KL2 TR000107
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL071250
Pays : United States
Organisme : NIDCR NIH HHS
ID : R00 DE026824
Pays : United States
Organisme : Medical Research Council
ID : MC_UP_1102/20
Pays : United Kingdom
Organisme : NICHD NIH HHS
ID : R01 HD091797
Pays : United States
Organisme : NHGRI NIH HHS
ID : T32 HG002295
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC95164
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK063491
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL071051
Pays : United States
Organisme : NIGMS NIH HHS
ID : P01 GM061354
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC95165
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC95159
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD081256
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC95161
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH105669
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001420
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH085548
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH111776
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH123451
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201500003I
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK020572
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR000040
Pays : United States
Organisme : NICHD NIH HHS
ID : P01 HD068250
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001881
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD096326
Pays : United States
Organisme : NHGRI NIH HHS
ID : K08 HG010155
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR003098
Pays : United States

Investigateurs

Jessica Alföldi (J)
Irina M Armean (IM)
Eric Banks (E)
Louis Bergelson (L)
Kristian Cibulskis (K)
Ryan L Collins (RL)
Kristen M Connolly (KM)
Miguel Covarrubias (M)
Beryl Cummings (B)
Mark J Daly (MJ)
Stacey Donnelly (S)
Yossi Farjoun (Y)
Steven Ferriera (S)
Laurent Francioli (L)
Stacey Gabriel (S)
Laura D Gauthier (LD)
Jeff Gentry (J)
Namrata Gupta (N)
Thibault Jeandet (T)
Diane Kaplan (D)
Konrad J Karczewski (KJ)
Kristen M Laricchia (KM)
Christopher Llanwarne (C)
Eric V Minikel (EV)
Ruchi Munshi (R)
Benjamin M Neale (BM)
Sam Novod (S)
Anne H O'Donnell-Luria (AH)
Nikelle Petrillo (N)
Timothy Poterba (T)
David Roazen (D)
Valentin Ruano-Rubio (V)
Andrea Saltzman (A)
Kaitlin E Samocha (KE)
Molly Schleicher (M)
Cotton Seed (C)
Matthew Solomonson (M)
Jose Soto (J)
Grace Tiao (G)
Kathleen Tibbetts (K)
Charlotte Tolonen (C)
Christopher Vittal (C)
Gordon Wade (G)
Arcturus Wang (A)
Qingbo Wang (Q)
James S Ware (JS)
Nicholas A Watts (NA)
Ben Weisburd (B)
Nicola Whiffin (N)
Carlos A Aguilar Salinas (CAA)
Tariq Ahmad (T)
Christine M Albert (CM)
Diego Ardissino (D)
Gil Atzmon (G)
John Barnard (J)
Laurent Beaugerie (L)
Emelia J Benjamin (EJ)
Michael Boehnke (M)
Lori L Bonnycastle (LL)
Erwin P Bottinger (EP)
Donald W Bowden (DW)
Matthew J Bown (MJ)
John C Chambers (JC)
Juliana C Chan (JC)
Daniel Chasman (D)
Judy Cho (J)
Mina K Chung (MK)
Bruce Cohen (B)
Adolfo Correa (A)
Dana Dabelea (D)
Mark J Daly (MJ)
Dawood Darbar (D)
Ravindranath Duggirala (R)
Josée Dupuis (J)
Patrick T Ellinor (PT)
Roberto Elosua (R)
Jeanette Erdmann (J)
Tõnu Esko (T)
Martti Färkkilä (M)
Jose Florez (J)
Andre Franke (A)
Gad Getz (G)
Benjamin Glaser (B)
Stephen J Glatt (SJ)
David Goldstein (D)
Clicerio Gonzalez (C)
Leif Groop (L)
Christopher Haiman (C)
Craig Hanis (C)
Matthew Harms (M)
Mikko Hiltunen (M)
Matti M Holi (MM)
Christina M Hultman (CM)
Mikko Kallela (M)
Jaakko Kaprio (J)
Sekar Kathiresan (S)
Bong-Jo Kim (BJ)
Young Jin Kim (YJ)
George Kirov (G)
Jaspal Kooner (J)
Seppo Koskinen (S)
Harlan M Krumholz (HM)
Subra Kugathasan (S)
Soo Heon Kwak (SH)
Markku Laakso (M)
Terho Lehtimäki (T)
Ruth J F Loos (RJF)
Steven A Lubitz (SA)
Ronald C W Ma (RCW)
Daniel G MacArthur (DG)
Jaume Marrugat (J)
Kari M Mattila (KM)
Steven McCarroll (S)
Mark I McCarthy (MI)
Dermot McGovern (D)
Ruth McPherson (R)
James B Meigs (JB)
Olle Melander (O)
Andres Metspalu (A)
Benjamin M Neale (BM)
Peter M Nilsson (PM)
Michael C O'Donovan (MC)
Dost Ongur (D)
Lorena Orozco (L)
Michael J Owen (MJ)
Colin N A Palmer (CNA)
Aarno Palotie (A)
Kyong Soo Park (KS)
Carlos Pato (C)
Ann E Pulver (AE)
Nazneen Rahman (N)
Anne M Remes (AM)
John D Rioux (JD)
Samuli Ripatti (S)
Dan M Roden (DM)
Danish Saleheen (D)
Veikko Salomaa (V)
Nilesh J Samani (NJ)
Jeremiah Scharf (J)
Heribert Schunkert (H)
Moore B Shoemaker (MB)
Pamela Sklar (P)
Hilkka Soininen (H)
Harry Sokol (H)
Tim Spector (T)
Patrick F Sullivan (PF)
Jaana Suvisaari (J)
E Shyong Tai (ES)
Yik Ying Teo (YY)
Tuomi Tiinamaija (T)
Ming Tsuang (M)
Dan Turner (D)
Teresa Tusie-Luna (T)
Erkki Vartiainen (E)
Marquis P Vawter (MP)
James S Ware (JS)
Hugh Watkins (H)
Rinse K Weersma (RK)
Maija Wessman (M)
James G Wilson (JG)
Ramnik J Xavier (RJ)

Commentaires et corrections

Type : CommentIn
Type : CommentIn
Type : ErratumIn

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Auteurs

Ryan L Collins (RL)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-1268-9995

Harrison Brand (H)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Konrad J Karczewski (KJ)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
ORCID: 0000-0003-2878-4671

Xuefang Zhao (X)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-4036-9577

Jessica Alföldi (J)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
ORCID: 0000-0001-9713-6200

Laurent C Francioli (LC)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Department of Medicine, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0002-3039-8895

Amit V Khera (AV)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

Chelsea Lowther (C)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Laura D Gauthier (LD)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Harold Wang (H)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

Nicholas A Watts (NA)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.

Matthew Solomonson (M)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.

Anne O'Donnell-Luria (A)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
ORCID: 0000-0001-6418-9592

Alexander Baumann (A)

Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Ruchi Munshi (R)

Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Mark Walker (M)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Christopher W Whelan (CW)

Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
ORCID: 0000-0001-8446-8468

Yongqing Huang (Y)

Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Ted Brookings (T)

Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Ted Sharpe (T)

Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Matthew R Stone (MR)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

Elise Valkanas (E)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0003-4624-4732

Jack Fu (J)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Grace Tiao (G)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.

Kristen M Laricchia (KM)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.

Valentin Ruano-Rubio (V)

Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Christine Stevens (C)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Namrata Gupta (N)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Caroline Cusick (C)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Lauren Margolin (L)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Kent D Taylor (KD)

The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
ORCID: 0000-0002-2756-4370

Henry J Lin (HJ)

The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.

Stephen S Rich (SS)

Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.
ORCID: 0000-0003-3872-7793

Wendy S Post (WS)

Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Yii-Der Ida Chen (YI)

The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.

Jerome I Rotter (JI)

The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
ORCID: 0000-0001-7191-1723

Chad Nusbaum (C)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Cellarity Inc., Cambridge, MA, USA.

Anthony Philippakis (A)

Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Eric Lander (E)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Department of Systems Biology, Harvard Medical School, Boston, MA, USA.
Department of Biology, MIT, Cambridge, MA, USA.

Stacey Gabriel (S)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Benjamin M Neale (BM)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
ORCID: 0000-0003-1513-6077

Sekar Kathiresan (S)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Department of Medicine, Harvard Medical School, Boston, MA, USA.
Division of Cardiology, Massachusetts General Hospital, Boston, MA, USA.
ORCID: 0000-0002-6724-032X

Mark J Daly (MJ)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Eric Banks (E)

Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Daniel G MacArthur (DG)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Department of Medicine, Harvard Medical School, Boston, MA, USA.
Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia.
Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.
ORCID: 0000-0002-5771-2290

Michael E Talkowski (ME)

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. talkowsk@broadinstitute.org.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. talkowsk@broadinstitute.org.
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. talkowsk@broadinstitute.org.
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. talkowsk@broadinstitute.org.
ORCID: 0000-0003-2889-0992

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Classifications MeSH

questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Maladie › A structural variation reference for medical...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › A structural variation reference for medical...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › A structural variation reference for medical...
questionsmedicales.fr › Professions de santé › Médecine › Génétique médicale › A structural variation reference for medical...
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génétique des populations › A structural variation reference for medical...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Génome humain › A structural variation reference for medical...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Techniques de génotypage › A structural variation reference for medical...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A structural variation reference for medical...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › A structural variation reference for medical...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A structural variation reference for medical...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › A structural variation reference for medical...
questionsmedicales.fr › Personnes › Nord-Américains › Groupes de population aux États-Unis › Populations d'origine continentale › A structural variation reference for medical...
questionsmedicales.fr › Techniques d'investigation › Poids et mesures › Normes de référence › A structural variation reference for medical...
questionsmedicales.fr › Phénomènes génétiques › Sélection génétique › A structural variation reference for medical...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › A structural variation reference for medical...