Release Notes
Full NGIS release notes can be found here
Coming Up Next!¶
Support for Known Pathogenic Variant Prioritisation (KPVP)
Genomics England are planning to update the rare disease tiering algorithm of the bioinformatics pipeline to support Known Pathogenic Variant Prioritisation (aka KPVP).
KPVP improves the sensitivity of the Genomics England rare disease pipeline by ensuring genomic variants that are known (e.g. present in specific databases) to be disease causing are not incorrectly filtered out by other tiering rules
To support KPVP - report events within "genomics_england_tiering" interpreted genomes will have some additional fields 'added' to them
The following Powerpoint deck highlights what the proposed changes are, along with an example interpreted genome
If you have any further questions or concerns about the impact on these changes on your application, please come along to CIP-API surgery call (Fridays at 1pm) in the new year