The current state of clinical interpretation of sequence variants.
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ABSTRACT:
SUBMITTER: Hoskinson DC
PROVIDER: S-EPMC5446800 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Publications
The current state of clinical interpretation of sequence variants.
Hoskinson Derick C DC Dubuc Adrian M AM Mason-Suares Heather H
Current opinion in genetics & development 20170131
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 guidelines can still lead to inconsistent classification across clinical molecular genetic la ...[more]
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