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Background

The Clinical Variant Ark (CVA) is the knowledge base built from NHS Clinical Scientist interpretations of rare disease patients in the 100K Genomes Project and NHS Genomic Medicine Service.

Attention

Variants in CVA are those that have been prioritised by Interpretation Services e.g. Tiering and Exomiser algorithms

CVA provides three mechanisms to access the data in the knowledgebase:

  1. A Graphical User Interface - The CVA Portal
  2. Via a REST API and
  3. Via a Python client

CVA at a Glance