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Article

The current state of clinical interpretation of sequence variants.

Current opinion in genetics & development - 1 Feb 2017

Hoskinson Derick C, Dubuc Adrian M, Mason-Suares Heather

Abstract excerpt

Accurate and consistent variant classification is required for Precision Medicine. But clinical variant classification remains in its infancy. While recent guidelines put forth jointly by the American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) for the classification of Mendelian variants has advanced the field, the degree of subjectivity allowed by these...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28157586
DOI: 10.1016/j.gde.2017.01.001
PMCID: PMC5446800

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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