Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines.

This article summarizes the approaches to, and rationale for, specifying three evidence categories (population frequency data, variant type and location, and case-level data), including available resources and a quantitative framework that can inform the specification process. © 2019 by John Wiley & Sons, Inc.
PMID: 31479589 [PubMed - in process]

Source: Current Protocols in Human Genetics - September 4, 2019 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research