Litcius/Paper detail

Considerations in assessing germline variant pathogenicity using cosegregation analysis

Sophie Belman, Michael T. Parsons, Amanda B. Spurdle, David E. Goldgar, Bing Feng

2020Genetics in Medicine40 citationsDOIOpen Access PDF

Topics & Concepts

PenetranceBayes' theoremMendelian inheritanceGeneticsBiologyMedical geneticsComputational biologyComputer scienceBayesian probabilityGeneArtificial intelligencePhenotypeGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology