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Interactive Variant Analysis (IVA)

Interactive Variant Analysis (IVA) a variant store. It allows you to access and filter all small variants found in 100kGP participants.

Tools in IVA

There are three tools available in IVA:

  • Variant Browser allows you to search all variants in the selected dataset by filters such as genes, consequences and frequency.
  • Case Portal allows you to filter all variants in a proband by family genotypes and other genome-based filters.
  • IVA catalog allows you to search the metadata stored in OpenCGA.

Only genomes which have been successfully processed through the Genomics England Interpretation pipeline are included in IVA. We can therefore be confident of the quality and integrity of the clinical and genomic data provided as genomes which fail quality control checks (such as contamination, genetic vs reported checks, coverage etc) are not included. Only small variants are included in IVA - structural variants can be accessed via the raw VCFs.

Studies in IVA

IVA data is organised in projects and studies at the IVA (a project might contain one or several studies). For more information please refer to IVA Project and Studies.

After logging into IVA, click the Studies tab on the top menu to select your study.

Be careful to note which study you are currently investigating!