ClinGen Allele Registry links information about genetic variants

Area of Science:

• Genomics
• Bioinformatics
• Medical Genetics

Background:

• Lack of globally unique identifiers hinders genetic variant information sharing.
• Difficulty in aggregating data from diverse sources impedes research and clinical applications.

Purpose of the Study:

• To introduce the ClinGen Allele Registry as a solution for unique genetic variant identification.
• To facilitate the aggregation and accessibility of genetic variant data.

Main Methods:

• Development of a canonicalization service using an in-memory sequence alignment-based index.
• Assignment of globally unique "canonical" variant identifiers (CAids) to nucleotide variants.
• Implementation of a searchable registry with programmatic access via REST APIs and JSON-LD format.

Main Results:

• Registration of over 650 million distinct genetic variants, including data from gnomAD, ExAC, dbSNP, and ClinVar.
• Provision of unique, dereferenceable CAids for efficient variant tracking.
• Demonstration of use cases showing linked information for variant pathogenicity reasoning.

Conclusions:

• The ClinGen Allele Registry effectively addresses the need for unique genetic variant identifiers.
• The registry enhances data aggregation and accessibility, supporting variant interpretation and research.
• Programmatic access and linked data facilitate advanced analysis of variant pathogenicity.