Quantitative Guidelines for Consegregation Variants

[PMID:27236918] [American Journal of Human Genetics]

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

“easily quantified criteria for cosegregation to support evidence levels defined by the ACMG-AMP variant classification guidelines1 in an effort to improve standardization of variant classification among clinical and other genomic laboratories. This is accompanied by a simplified calculation of N and also the ability to use these guidelines with fewer assumptions by calculation of a BF2, 3and comparing 1/BF to the cutoffs proposed.”


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