Ontology highlight
ABSTRACT:
SUBMITTER: Allot A
PROVIDER: S-EPMC6030971 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Allot Alexis A Peng Yifan Y Wei Chih-Hsuan CH Lee Kyubum K Phan Lon L Lu Zhiyong Z
Nucleic acids research 20180701 W1
The identification and interpretation of genomic variants play a key role in the diagnosis of genetic diseases and related research. These tasks increasingly rely on accessing relevant manually curated information from domain databases (e.g. SwissProt or ClinVar). However, due to the sheer volume of medical literature and high cost of expert curation, curated variant information in existing databases are often incomplete and out-of-date. In addition, the same genetic variant can be mentioned in ...[more]