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Avinash Ramu edited this page Apr 18, 2015 · 3 revisions

Maury was run 1055 tumor-normal pairs. Read depths at 126 common polymorphisms were used to ascertain genotype concordance between the pairs. The SNPS used were obtained from the Pengelly et al paper - http://www.ncbi.nlm.nih.gov/pubmed/24070238

The known pair of sample-swap which motivated this package clearly stands out in the histogram with a score of 0.375 and serves as a quick gut-check. A couple of the tumor-normal pairs, I think, were actually mom-child pair from a trio, these are around 0.6. The tumors frequently have CNVs and structural-variants which would explain some of the discordance. As you can see the majority have perfect concordance at these sites.

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