Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 98, Issue 6, Pages 1077-1081Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2016.04.003
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Funding
- NIH [U01 HG006507, U01 HG007307, U01HG008657, R01 HG008359]
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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 ACMG-AMP guidelines is the lack of a definition of cosegregation as criteria for pathogenicity classification. Cosegregation data differ from many other types of pathogenicity data in being quantitative. However, the ACMG-AMP guidelines do not define quantitative criteria for use of these data. Here, such quantitative criteria, in an easily implementable form, are proposed.
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