BIRS Workshop Lecture Videos

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BIRS Workshop Lecture Videos

Copy number analysis of circulating cell-free DNA. Seshan, Venkatraman


Cell-free plasma DNA (cfDNA) is defined as fragments of DNA present in the extracellular fluid. These DNA fragments are mostly derived from cells that underwent apoptosis. In a subject with cancer, cfDNA are derived from both normal and tumor cells and thus it will reflect somatic changes present in the tumor DNA. In this talk we will present a method to estimate tumor fraction from shallow whole genome sequencing and one to estimate allele specific copy numbers from targeted deep sequencing. We will demonstrate the statistical issues and computational challenges faced with data from data from samples that have undergone these assays.

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