Distinguishing Variant Pathogenicity From Genetic Diagnosis-Reference-Cited by-同舟云学术

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Distinguishing Variant Pathogenicity From Genetic Diagnosis

Published:2018-11-13 Issue:18 Volume:320 Page:1929
ISSN:0098-7484
Container-title:JAMA
language:en
Short-container-title:JAMA

Author:

Biesecker Leslie G.¹,Nussbaum Robert L.²³,Rehm Heidi L.⁴⁵

Affiliation:

1. Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

2. University of California, San Francisco

3. Invitae Corp, San Francisco, California

4. Center for Genomic Medicine, Massachusetts General Hospital, Boston

5. Broad Institute of MIT and Harvard, Cambridge, Massachusetts

Publisher

American Medical Association (AMA)

Subject

General Medicine

Reference4 articles.

1. Diagnostic clinical genome and exome sequencing.;Biesecker;N Engl J Med,2014

2. Finding the rare pathogenic variants in a human genome.;Evans;JAMA,2017

3. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0).;Kalia;Genet Med,2017

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.;Richards;Genet Med,2015

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2. Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing;JAMA Network Open;2023-10-25

3. Computational in silico genetic variant prediction tools in cardiovascular disease;Annals of Noninvasive Electrocardiology;2023-08-21

4. Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing;Journal of Neuromuscular Diseases;2023-07-04

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