Genetic variant interpretation: a primer for clinicians-Reference-Cited by-同舟云学术

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Genetic variant interpretation: a primer for clinicians

Published:2021-09 Issue:9 Volume:51 Page:1401-1406
ISSN:1444-0903
Container-title:Internal Medicine Journal
language:en
Short-container-title:Intern Med J

Author:

Kaushik Varun¹²^ORCID,Plazzer John‐Paul²,Winship Ingrid³⁴,Macrae Finlay²⁴^ORCID

Affiliation:

1. The Faculty of Medicine, Dentistry and Health Sciences The University of Melbourne Melbourne Victoria Australia

2. Department of Colorectal Medicine and Genetics The Royal Melbourne Hospital Melbourne Victoria Australia

3. Department of Genomic Medicine The Royal Melbourne Hospital Melbourne Victoria Australia

4. Department of Medicine The University of Melbourne, The Royal Melbourne Hospital Melbourne Victoria Australia

Publisher

Wiley

Subject

Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/imj.15485

Reference23 articles.

1. The Human Variome Project

2. Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

3. ClinGen — The Clinical Genome Resource

4. ClinVar at five years: Delivering on the promise

5. The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

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