Ontology highlight
ABSTRACT:
SUBMITTER: Abi-Rached L
PROVIDER: S-EPMC6203392 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
PloS one 20181026 10
Defining worldwide human genetic variation is a critical step to reveal how genome plasticity contributes to disease. Yet, there is currently no metric to assess the representativeness and completeness of current and widely used data on genetic variation. We show here that Human Leukocyte Antigen (HLA) genes can serve as such metric as they are both the most polymorphic and the most studied genetic system. As a test case, we investigated the 1,000 Genomes Project panel. Using high-accuracy in si ...[more]