Consideration of cosegregation in the pathogenicity classification of genomic variants

CSER work has identified inconsistency in the application of cosegregation criteria as one cause for discordance among labs applying the ACMG/AMP pathogenicity classification system.  In the 5/26 online and 6/2 print edition of the American Journal of Human Genetics, University of Washington CSER members Gail Jarvik and Brian Browning propose an easily implementable system to categorize cosegregation data within the ACMG/AMP framework. They suggest cosegregation cutoffs for each ACMG/AMP evidence criteria.

You may find the online version of this paper here.