mosaic loss of chromosome - bioinformatics score
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2.4 years ago
cocchi.e89 ▴ 290

I am trying to implement a strategy to investigate mosaic loss of chromosome Y (mLOY) with some CNV caller that works on NGS data. I imagined that GATK somatic CNV caller could make sense for this purpose but I am not sure about what would be the best score to interpret mLOY. Median Absolute Deviation from PlotDenoisedCopyRatios (as explained here) could make sense, but I would love more expert people opinion and other ideas!

GATK chromosome CNV loss mosaic • 462 views
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