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What is Rare Disease Tiering data?ΒΆ


What is Rare Disease Tiering data?


The Genomics England Rare Disease Tiering Process is to aid NHS GMC evaluation of Rare Disease primary finding results by annotating variants that are plausibly pathogenic based on their segregation in the family, frequency in control populations, effect on protein coding, mode of inheritance, and whether they are in a gene in the virtual gene panel(s) applied to the family. You can read more about the Tiering Process here under the Rare Disease Results Guide.

You can use the LabKey table tiering_data to browse and analyse the Tiering data for interpreted rare disease genomes.

Last updated

This page was last updated on the 24 Jun 2019.