Article

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

2018-05-08

Abstract excerpt

<h4>ABSTRACT</h4> Due to the high genetic heterogeneity of hearing loss, 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 pro...

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Literature Corpus work: 5207aae5-df8f-58ca-b844-9b223266f2c7
DOI: 10.1101/313734

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