Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders-Reference-Cited by-同舟云学术

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Published:2019-09-01 Issue:5 Volume:39 Page:421-429
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Kim Young-Eun¹^ORCID,Ki Chang-Seok²^ORCID,Jang Mi-Ae³^ORCID

Affiliation:

1. Department of Laboratory Medicine, Hanyang University College of Medicine, Seoul, Korea

2. Green Cross Genome, Yongin, Korea

3. Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea

Funder

Korean Society for Genetic Diagnostics

Soonchunhyang University

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2019.39.5.421

Reference52 articles.

1. Reporting practices for variants of uncertain significance from next generation sequencing technologies

2. ACMG recommendations for standards for interpretation of sequence variations

3. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

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

5. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

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