Frequency spectrum of rare and clinically relevant markers in multi-ethnic Indian populati

ClinIndb is a database created by researchers at the Institute of Genomics and Integrative Biology to catalog rare and deleterious genetic variants relevant to monogenic diseases in Indian populations. It contains frequency data for ClinVar variants derived from genotype data of 2,795 individuals representing diverse ethnic and geographic groups across India. The resource aims to support genomic medicine by providing data underrepresented in global public databases.

Use Cases

• Assessing population-specific carrier risk for monogenic diseases based on allele frequency data.
• Developing genetic screening panels for Inborn Errors of Metabolism, Monogenic Diabetes, and hereditary cancers relevant to Indian populations.
• Benchmarking genetic representation of Indian cohorts against global datasets like the 1000 Genomes Project.
• Prioritizing clinically relevant variants for diagnostic assay design based on their frequency in the study cohort.

Strengths

• Contains data from 2,795 individuals representing diverse Indian ethnicities.
• Reports that ~12% of analyzed variants were informative and either not known or underrepresented in public databases.
• Explicitly compares genetic representation to the South Asian cohort in the 1000 Genomes Project.

Limitations

• Row count and specific column-level documentation are unknown, limiting suitability assessment.
• Last update date is unknown; freshness unverified.
• Data may reflect geographic and cohort biases inherent to the specific in-house genomics studies used.

Provenance

Source

Institute of Genomics and Integrative Biology

Collection Method

Genotype data from multiple in-house genomics cohorts, genotyped using the Illumina Global Screening Array.

Geography

India (diverse ethnic and geographically distinct populations)