The role of clinical response to treatment in determining pathogenicity of genomic variants
The role of clinical response to treatment in determining pathogenicity of genomic variants
About this item
Full title
Author / Creator
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Purpose
The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for the interpretation of sequence variants provide a framework to standardize terminology in the classification of variants uncovered through genetic testing. We aimed to assess the validity of utilizing clinical response...
Alternative Titles
Full title
The role of clinical response to treatment in determining pathogenicity of genomic variants
Authors, Artists and Contributors
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Record Identifier
TN_cdi_proquest_miscellaneous_2453683278
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2453683278
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-00996-9
