Changes between Version 2 and Version 3 of Courses/ComputationalMolecularBiologyResearch2016/P1
- Timestamp:
- 2016-01-29T18:30:15+01:00 (9 years ago)
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Courses/ComputationalMolecularBiologyResearch2016/P1
v2 v3 15 15 * The genetic variant was sequenced and called, but we cannot interpret the effect of the variant correctly. 16 16 17 == Project 1 - Improved variant calling for DNA seq 17 == Project 1 - Improved variant calling for DNA seq == 18 18 19 19 In 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 The samples were originally analysed with a now outdated version of the human reference genome GRCh37.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.
