Ontology highlight
ABSTRACT:
SUBMITTER: Kroncke BM
PROVIDER: S-EPMC7347235 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Kroncke Brett M BM Smith Derek K DK Zuo Yi Y Glazer Andrew M AM Roden Dan M DM Blume Jeffrey D JD
PLoS genetics 20200622 6
A major challenge emerging in genomic medicine is how to assess best disease risk from rare or novel variants found in disease-related genes. The expanding volume of data generated by very large phenotyping efforts coupled to DNA sequence data presents an opportunity to reinterpret genetic liability of disease risk. Here we propose a framework to estimate the probability of disease given the presence of a genetic variant conditioned on features of that variant. We refer to this as the penetrance ...[more]