Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hear...
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
The 2018 Hearing Loss Expert Panel (HL-EP)-specific guidelines specified from the universal 2015 ACMG/AMP guidelines are proposed to be used in genetic HL, which prompted this study. A genetic HL cohort comprising 135 unrelated probands with available exome sequencing data was established. Overall, 169 variants were prioritized as candidates and in...
Alternative Titles
Full title
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_b22ed8b2ba0840258707c314be04aa1d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b22ed8b2ba0840258707c314be04aa1d
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-022-16661-x
