Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

Abstract excerpt

Despite a recent surge in novel gene discovery, genetic causes of prenatal-lethal phenotypes remain poorly defined. To advance gene discovery in prenatal-lethal disorders, we created an easy-to-mine database integrating known human phenotypes with inheritance pattern, scores of genetic constraint, and murine and cellular knockout phenotypes-then critically assessed defining features of known prenatal-lethal...

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