Haploinsufficiency in gene information
A very useful resource for evaluating the importance of LOF variants and CNVs:
- Add data (haploinsufficiency and triplosensitive scores) from the ClinGen Dosage Sensitivity Map, to be displayed as part of the gene level information (also relevant for #20 (closed))
- In MEET-156 it was suggested that scores should be displayed at all times (when available), next to the gene name.
- There should also be a link to the gene in the gene popup:
https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=gene symbol
Notes
- This resource is limited, and ATM only includes 1475 genes. For the rest, a possibility could be to display information included in ExAC (available here). See also: Lek et al.
- This information could possibly be used in the ACMG rules engine, particularly for PVS1 prediction (#102 (closed)) and REQ_GP_LOF/missense
Edited by Morten C. Eike