The clinical utility of whole‐exome sequencing in the context of rare diseases – the changing tides of medical practice-Reference-Cited by-同舟云学术

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The clinical utility of whole‐exome sequencing in the context of rare diseases – the changing tides of medical practice

Published:2015-01-06 Issue:4 Volume:88 Page:313-319
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Nguyen M.T.¹,Charlebois K.¹

Affiliation:

1. Centre of Genomics and Policy McGill University and Génome Québec Innovation Centre Montreal Quebec Canada

Funder

Canadian Institutes of Health Research

Children's Hospital of Eastern Ontario Foundation

Genome Canada

Genome Quebec

Ontario Genomics Institute

Ontario Research Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12546

Reference17 articles.

1. The usefulness of whole-exome sequencing in routine clinical practice

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

3. Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

4. Genomics for clinical utility: the future is near

5. What is the clinical utility of genetic testing?

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3. Physicians’ use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study;Orphanet Journal of Rare Diseases;2023-08-10

4. Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2;Frontiers in Genetics;2022-08-31

5. Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects;Frontiers in Genetics;2022-01-26

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