Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

FLT4 NOTCH1 heart disease rare variants tetralogy of fallot whole genome sequencing

Journal

Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621

Informations de publication

Date de publication:
2020
Historique:
received: 28 02 2020
accepted: 30 07 2020
entrez: 28 10 2020
pubmed: 29 10 2020
medline: 29 10 2020
Statut: epublish

Résumé

Recent genome-wide studies of rare genetic variants have begun to implicate novel mechanisms for tetralogy of Fallot (TOF), a severe congenital heart defect (CHD). To provide statistical support for case-only data without parental genomes, we re-analyzed genome sequences of 231 individuals with TOF (

Identifiants

DOI: 10.3389/fgene.2020.00957 PMID: 33110418 PMC: PMC7522597
pubmed: 33110418
doi: 10.3389/fgene.2020.00957
pmc: PMC7522597
doi:

Types de publication

Journal Article

Langues

eng

Pagination

957

Informations de copyright

Copyright © 2020 Manshaei, Merico, Reuter, Engchuan, Mojarad, Chaturvedi, Heung, Pellecchia, Zarrei, Nalpathamkalam, Khan, Okello, Liston, Curtis, Yuen, Marshall, Jobling, Oechslin, Wald, Silversides, Scherer, Kim and Bassett.

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Auteurs

Roozbeh Manshaei (R)

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.

Daniele Merico (D)

Deep Genomics Inc., Toronto, ON, Canada.
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.

Miriam S Reuter (MS)

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.

Worrawat Engchuan (W)

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.

Bahareh A Mojarad (BA)

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.

Rajiv Chaturvedi (R)

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.
Labatt Heart Centre, Division of Cardiology, The Hospital for Sick Children, Toronto, ON, Canada.

Tracy Heung (T)

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
The Dalglish Family 22q Clinic, University Health Network, Toronto, ON, Canada.

Giovanna Pellecchia (G)

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.

Mehdi Zarrei (M)

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.

Thomas Nalpathamkalam (T)

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.

Reem Khan (R)

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.

John B A Okello (JBA)

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.

Eriskay Liston (E)

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.

Meredith Curtis (M)

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.

Ryan K C Yuen (RKC)

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

Christian R Marshall (CR)

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.

Rebekah K Jobling (RK)

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.
Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.

Erwin Oechslin (E)

Division of Cardiology, Toronto Congenital Cardiac Centre for Adults at the Peter Munk Cardiac Centre, Department of Medicine, University Health Network, Toronto, ON, Canada.

Rachel M Wald (RM)

Labatt Heart Centre, Division of Cardiology, The Hospital for Sick Children, Toronto, ON, Canada.
Division of Cardiology, Toronto Congenital Cardiac Centre for Adults at the Peter Munk Cardiac Centre, Department of Medicine, University Health Network, Toronto, ON, Canada.

Candice K Silversides (CK)

Division of Cardiology, Toronto Congenital Cardiac Centre for Adults at the Peter Munk Cardiac Centre, Department of Medicine, University Health Network, Toronto, ON, Canada.

Stephen W Scherer (SW)

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada.

Raymond H Kim (RH)

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Department of Medicine, University of Toronto, Toronto, ON, Canada.

Anne S Bassett (AS)

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.
The Dalglish Family 22q Clinic, University Health Network, Toronto, ON, Canada.
Division of Cardiology, Toronto Congenital Cardiac Centre for Adults at the Peter Munk Cardiac Centre, Department of Medicine, University Health Network, Toronto, ON, Canada.
Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
Department of Mental Health, Toronto General Hospital Research Institute, University Health Network, Toronto, ON, Canada.

Classifications MeSH