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Finding participants by genotype in IVAΒΆ

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Interactive Variant Analysis (IVA) is a no code tools that allows you to explore all the variants found in 100kGP participants. You can use the Variant Browser application in IVA to find all participants with particular genomic variants or variants in certain genes or regions.

NHS GMS data is not currently available in IVA.

In the Variant Browser, you can use the filters under Genomic to find variants at or within a particular locus, by gene with either gene names or Ensembl IDs, or by rsIDs (note that most of the variants in 100kGP do not have rsIDs associated with them). If searching by a gene or larger locus, you may also want to filter by consequences or allele frequency in public databases.

Select a variant, then scroll down to see more details and select Samples. Here you can see and download tables of participants with that variant; note that if you are searching by gene you will need to download variant-by-variant.

IVA has different programmes for rare disease GRCh37, rare disease GRCh38, cancer germline and cancer somatic. To find participants across programmes, this means repeating your search on each.