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Article

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.

American journal of human genetics - 2 Jun 2016

Jarvik Gail P, Browning Brian L

Abstract excerpt

The American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) recently published important new guidelines aiming to improve and standardize the pathogenicity classification of genomic variants. The Clinical Sequencing Exploratory Research (CSER) consortium evaluated the use of these guidelines across nine laboratories. One identified obstacle to consistent usage of the...

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PMID: 27236918
DOI: 10.1016/j.ajhg.2016.04.003
PMCID: PMC4908147

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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