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VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss.

Human mutation - 1 Dec 2021

Peng Jiguang, Xiang Jiale, Jin Xiangqian, Meng Junhua, Song Nana, Chen Lisha, Abou Tayoun Ahmad, Peng Zhiyu

Abstract excerpt

The American College of Medical Genetics and Genomics, and the Association for Molecular Pathology (ACMG/AMP) have proposed a set of evidence-based guidelines to support sequence variant interpretation. The ClinGen hearing loss expert panel (HL-EP) introduced further specifications into the ACMG/AMP framework for genetic hearing loss. This study developed a tool named Variant Interpretation Platform for genetic...

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PMID: 34428318
DOI: 10.1002/humu.24277

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