damiansm
damiansm
Currently we are analysing the Exomiser results for GeL using a case vs control burden type approach to discover new disease genes. Not sure if should always remain as a...
Clinical-grade disease-gene associations: 3928 genes in OMIM currently associated to disease,
After discussions probably best strategy is to give all spliceAI predicted variants with a maxScore(acceptorGain, acceptorLoss, donorGain, donorLoss) above a threshold (0.2 for high recall and likely pathogenic vars, 0.5...
@pnrobinson absolutey! that is the plan. I am sure like most predictive methods that using multiple lines of evidence will be the best in the end.
Hi Shruti, Not currently integrated. We definitely have plans to incorporate this and other splicing approaches in the future but no timeline yet Cheers Damian On Thu, May 28, 2020...
I have successfully generated a tabix score files for SpliceAI SNVs that can be run as a local source. Look to more tightly incorporate scores into the database as a...
Relates to scoring issue really
Whats the idea here? To add solved gene to phenotype associations from UDP or UDN? Is there a decent number now and are they really sharable with the world?
Sounds cool. Guess we need to think about user options/defaults for these n-of-1 cases. Are they solved, possible candidates or a mixture? Guessing the latter. Of course OMIM already has...
Hi Sungeun, For the first one it looks like the issue is either in the way EXAC calculated the EAS frequency or we have a parsing error when we incorporated...