Practical considerations for reinterpretation of individual genetic variants-Reference-Cited by-同舟云学术

Practical considerations for reinterpretation of individual genetic variants

Published:2023-05 Issue:5 Volume:25 Page:100801
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Appelbaum Paul S.,Berger Sara M.^ORCID,Brokamp Elly,Brown Henry Shelton,Burke Wylie,Clayton Ellen Wright,Evans Barbara J.,Hamid Rizwan,Marchant Gary E.,Martin Donna M.,O’Connor Bridget C.,Pagán José A.,Parens Erik,Roberts Jessica L.,Rowe John,Schneider John,Siegel Karolynn,Veenstra David L.,Chung Wendy K.^ORCID

Funder

NIH

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference24 articles.

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2. Mighton C, Charames GS, Wang M, et al. Variant classification changes over time in BRCA1 and BRCA2. Genet Med. 2019;21(10):2248-2254. Published correction appears in Genet Med. 2019;21(10):2406-2407. https://doi.org/10.1038/s41436-019-0493-2

3. Clinical utility of reinterpreting previously reported genomic epilepsy test results for pediatric patients;Sorelle;JAMA Pediatr,2019

4. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG);Deignan;Genet Med,2019

5. 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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4. Moral obligation to actively reinterpret VUS and the constraint of NGS technologies;Journal of Medical Ethics;2023-10-03

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