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Cohort analysis #67

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damiansm opened this issue Apr 15, 2015 · 3 comments
Open

Cohort analysis #67

damiansm opened this issue Apr 15, 2015 · 3 comments
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enhancement
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Release 9.0.0 Issues triage
Milestone
9.0.0

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@damiansm
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damiansm commented Apr 15, 2015 •
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Allow analysis of a large cohort of unrelated patients allowing for incomplete penetrance etc
@visze
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visze commented Apr 20, 2015

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

@julesjacobsen
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Big single sample VCF?
PED file?
CohortGeneScorer?

@damiansm damiansm added this to the 9.0.0 milestone Jul 10, 2017
@damiansm damiansm added this to TODO - enhancements in Release 9.0.0 Jul 10, 2017
@damiansm damiansm moved this from Viz improvements to New features in Release 9.0.0 Jul 20, 2017
@damiansm damiansm added this to New scores or algs in Issues triage Oct 30, 2018
@damiansm
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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

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enhancement
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Release 9.0.0
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@julesjacobsen @damiansm @visze