Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care-Reference-Cited by-同舟云学术

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Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

Published:2016-05-10 Issue:5 Volume:4 Page:504-512
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Hamilton Alison¹,Tétreault Martine²³,Dyment David A.¹⁴,Zou Ruobing¹,Kernohan Kristin¹,Geraghty Michael T.¹⁵,Hartley Taila¹,Boycott Kym M.¹⁴, ,

Affiliation:

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

2. Department of Human Genetics McGill University Montréal Québec Canada

3. McGill University and Genome Québec Innovation Center Montréal Québec Canada

4. Department of Genetics Children's Hospital of Eastern Ontario Research Ottawa Ontario Canada

5. Division of Metabolics and Newborn Screening Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa Ontario Canada

Funder

Genome Canada

Canadian Institutes of Health Research

Ontario Genomics Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.223

Reference28 articles.

1. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

2. Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing

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

4. Rare-disease genetics in the era of next-generation sequencing: discovery to translation

5. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues

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