Human Mutation· 2018Q1

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

Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman et al.

521citations
Q1SCImago
2018year

Short summary

A panel adapted the ACMG/AMP guidelines for genetic hearing loss, specifying 21 rules and removing 4, resulting in a 37% reclassification of 51 pilot variants.

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Field: Sensory Systems

Sensory SystemsNeuroscience