Exomiser GTEX expression filtering/prioritisation

GTEX expression filtering/prioritisation

Open damiansm opened this issue 6 years ago • 1 comments

with Lukas from Jenny Taylor's team, 3rd yr PhD
Has method to generate an expression score for each variant based on how similar the expression of the gene in GTEX is to the predicted expression based on gene->HPO->GTEX tissue
Trained classifier on the FATTHM Cardiff set
Gave him our HGMD 2012 file for further training
Can we incorporate into Exomiser
How does this fit into Pilar's work?
Also Hannah and Peter working on GTEX expression to phenotype part of Translator project as well according to Chris

May 03 '18 10:05 damiansm

We definitely need to do this now: https://www.nature.com/articles/s41467-019-13345-5

We know Gareth so could collaborate possibly.

and also GADO GADO_2019.pdf

Nov 21 '19 19:11 damiansm