Article
In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes.
Proceedings of the National Academy of Sciences of the United States of America - 25 Jul 2023
Ding Xinbao, Singh Priti, Schimenti Kerry, Tran Tina N, Fragoza Robert, Hardy Jimmaline, Orwig Kyle E, Olszewska Marta, Kurpisz Maciej K, Yatsenko Alexander N, Conrad Donald F, Yu Haiyuan, Schimenti John C
Abstract excerpt
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). Interpreting the functional impacts of VUS is challenging but profoundly...
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