Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Adolescent
Adult
Animals
Female
Genetic Predisposition to Disease
/ genetics
Genetic Variation
/ genetics
Genomics
Heart
/ physiology
Heart Defects, Congenital
/ genetics
Humans
Male
Mice
Middle Aged
Open Reading Frames
/ genetics
RNA, Untranslated
/ genetics
RNA-Binding Proteins
/ genetics
Transcription, Genetic
/ genetics
Young Adult
Journal
Nature genetics
ISSN: 1546-1718
Titre abrégé: Nat Genet
Pays: United States
ID NLM: 9216904
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
09
03
2019
accepted:
22
05
2020
pubmed:
1
7
2020
medline:
27
10
2020
entrez:
1
7
2020
Statut:
ppublish
Résumé
A genetic etiology is identified for one-third of patients with congenital heart disease (CHD), with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution of noncoding DNVs to CHD, we compared genome sequences from 749 CHD probands and their parents with those from 1,611 unaffected trios. Neural network prediction of noncoding DNV transcriptional impact identified a burden of DNVs in individuals with CHD (n = 2,238 DNVs) compared to controls (n = 4,177; P = 8.7 × 10
Identifiants
pubmed: 32601476
doi: 10.1038/s41588-020-0652-z
pii: 10.1038/s41588-020-0652-z
pmc: PMC7415662
mid: NIHMS1597372
doi:
Substances chimiques
RNA, Untranslated
0
RNA-Binding Proteins
0
Types de publication
Clinical Trial
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
769-777Subventions
Organisme : NHLBI NIH HHS
ID : UM1 HL098162
Pays : United States
Organisme : NICHD NIH HHS
ID : T32 HD075735
Pays : United States
Organisme : NCATS NIH HHS
ID : U2C TR002818
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM120609
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL131003
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL057181
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL098166
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM071966
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL128761
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL098147
Pays : United States
Organisme : NHLBI NIH HHS
ID : R24 HL123879
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098147
Pays : United States
Organisme : NHLBI NIH HHS
ID : R03 HL147197
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL098123
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002538
Pays : United States
Organisme : NHLBI NIH HHS
ID : R03 HL138352
Pays : United States
Organisme : NIH HHS
ID : S10 OD018522
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098153
Pays : United States
Organisme : NIH HHS
ID : S10 OD026880
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098163
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007280
Pays : United States
Organisme : NICHD NIH HHS
ID : U24 HD090743
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL128711
Pays : United States
Commentaires et corrections
Type : CommentIn
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