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Article

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Scientific reports - 21 Jul 2022

Kim So Young, Kim Bong Jik, Oh Doo Yi, Han Jin Hee, Yi Nayoung, Kim Namju Justin, Park Moo Kyun, Keum Changwon, Seo Go Hun, Choi Byung Yoon

Abstract excerpt

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 interpreted using the 2015 ACMG/AMP and 2018 HL-EP guidelines....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Variation

Share to Genome, Human

Share to Head and Neck Anomalies

Share to Hearing, Cochlea, Tinnitus, Genetics

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Identifiers

PMID: 35864128
DOI: 10.1038/s41598-022-16661-x
PMCID: PMC9304357

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