Dario
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HaplotypeCaller's Underlying Statistical Model
What statistical model does HaplotypeCaller use to decide between possible genotypes? In the simplest case of only a reference base and one alternate base at a position, I imagine something like a ...
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Implicit Assumption of Germline Short Variant Discovery
Is an implicit assumption of the pipeline that the normal sample is far away enough from the tumour sample, such as a blood sample, so that cancer cells are not present at low levels? I have been s...
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Mutect for Somatic SNVs in Highly Polymorphic Genome Regions
AnsweredCould there be a document created which carefully explains somatic SNV calling in regions where the reference genome sequence is not representative of what most people have? There is the clunky Pol...