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Published 20 hours ago • verified publisher icon exomiser

Cohort analysis

Open damiansm opened this issue 10 years ago • 3 comments

Allow analysis of a large cohort of unrelated patients allowing for incomplete penetrance etc

damiansm avatar Apr 15 '15 08:04 damiansm

I'm still working on the jannovar pedigree filter and I will extend it to large pedigrees.

But this does not cover:

  • incomplete penetrance
  • Analyzing patients from different (searching for the same mutated gene vs. the same mutation). But I think this will be feasible implementation in jannovar

visze avatar Apr 20 '15 09:04 visze

Big single sample VCF? PED file? CohortGeneScorer?

julesjacobsen avatar Dec 15 '15 14:12 julesjacobsen

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 separate post-Exomiser analysis

damiansm avatar Oct 30 '18 11:10 damiansm