Clinical Implementation and Validation of Automated Human Genome Variation Society (HGVS) Nomenclature System for Next-Generation Sequencing–Based Assays for Cancer-Reference-Cited by-同舟云学术

Clinical Implementation and Validation of Automated Human Genome Variation Society (HGVS) Nomenclature System for Next-Generation Sequencing–Based Assays for Cancer

Published:2018-09 Issue:5 Volume:20 Page:628-634
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Callenberg Keith M.,Santana-Santos Lucas,Chen Liang,Ernst Wayne L.,De Moura Michelle B.,Nikiforov Yuri E.,Nikiforova Marina N.,Roy Somak^ORCID

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference18 articles.

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3. 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

4. What's in a name? A coordinated approach toward the correct use of a uniform nomenclature to improve patient reports and databases;Tack;Hum Mutat,2016

5. Standards and guidelines for validating next-generation sequencing bioinformatics pipelines: a joint recommendation of the Association for Molecular Pathology and the College of American Pathologists;Roy;J Mol Diagn,2018

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