ClinGen Allele Registry links information about genetic variants.

ABSTRACT: Effective exchange of information about genetic variants is currently hampered by the lack of readily available globally unique variant identifiers that would enable aggregation of information from different sources. The ClinGen Allele Registry addresses this problem by providing (1) globally unique "canonical" variant identifiers (CAids) on demand, either individually or in large batches; (2) access to variant-identifying information in a searchable Registry; (3) links to allele-related records in many commonly used databases; and (4) services for adding links to information about registered variants in external sources. A core element of the Registry is a canonicalization service, implemented using in-memory sequence alignment-based index, which groups variant identifiers denoting the sa

SUBMITTER: Pawliczek P 

PROVIDER: S-EPMC6519371 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature