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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

11 Oct 2018

Abstract excerpt

Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpretation is crucial to provide consistent and accurate diagnoses. The Hearing Loss Variant Curation Expert Panel was created within the Clinical Genome Resource to provide expert...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30311386
DOI: 10.1002/humu.23630

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