Changes between Version 1 and Version 2 of Courses/ComputationalMolecularBiologyResearch2016/P1


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Timestamp:
2016-01-29T18:29:26+01:00 (9 years ago)
Author:
Pieter Neerincx
Comment:

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  • Courses/ComputationalMolecularBiologyResearch2016/P1

    v1 v2  
    1515* The genetic variant was sequenced and called, but we cannot interpret the effect of the variant correctly.
    1616
    17 == Projects 1 - Improved variant calling for DNA seq
     17== Project 1 - Improved variant calling for DNA seq
    1818
    1919In this student research project we will re-analyse 60 samples of unsolved cases sequenced with a Dystonia Gene Panel kit and test if we can increase the diagnostic yield for this group of patients. The samples were originally analysed with a now outdated version of the human reference genome GRCh37. We will focus on the impact of the using the updated human genome reference GRCh38 and in addition include mtDNA in the analysis,which was previously missed.