In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes

The latest paper is now available online in PNAS. Abstract Infertility is a heterogeneous condition, with genetic causes thought to underlie a substantial fraction of cases. Genome sequencing is becoming increasingly important for genetic diagnosis of diseases including idiopathic infertility; however, most rare or minor alleles identified in patients are variants of uncertain significance (VUS). […]