When to think outside the autozygome: Best practices for exome sequencing in “consanguineous” families-Reference-Cited by-同舟云学术

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When to think outside the autozygome: Best practices for exome sequencing in “consanguineous” families

Published:2020-03-30 Issue:6 Volume:97 Page:835-843
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Eaton Alison¹^ORCID,Hartley Taila¹,Kernohan Kristin¹²,Ito Yoko¹,Lamont Ryan³,Parboosingh Jillian³,Barrowman Nick⁴,Innes A. Micheil³,Boycott Kym¹^ORCID,

Affiliation:

1. Children's Hospital of Eastern Ontario Research InstituteUniversity of Ottawa Ottawa Ontario Canada

2. Newborn Screening OntarioChildren's Hospital of Eastern Ontario Ottawa Ontario Canada

3. Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of MedicineUniversity of Calgary Calgary Alberta Canada

4. Clinical Research Unit, Children's Hospital of Eastern Ontario Research InstituteUniversity of Ottawa Ottawa Ontario Canada

Funder

Canadian Institutes of Health Research

Genome Alberta

Genome British Columbia

Genome Canada

Ontario Genomics Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13736

Reference33 articles.

1. FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

2. Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

3. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

4. Clinical application of whole-exome sequencing across clinical indications

5. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism;BMC Medical Genomics;2024-08-05

2. Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations;Genetics in Medicine;2023-09

3. Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%;European Journal of Human Genetics;2023-07-18

4. Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples;Journal of Medical Genetics;2022-12-08

5. Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery;The American Journal of Human Genetics;2022-11

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