Article
Germline contamination and leakage in whole genome somatic single nucleotide variant detection.
BMC bioinformatics - 31 Jan 2018
Sendorek Dorota H, Caloian Cristian, Ellrott Kyle, Bare J Christopher, Yamaguchi Takafumi N, Ewing Adam D, Houlahan Kathleen E, Norman Thea C, Margolin Adam A, Stuart Joshua M, Boutros Paul C
Abstract excerpt
BACKGROUND: The clinical sequencing of cancer genomes to personalize therapy is becoming routine across the world. However, concerns over patient re-identification from these data lead to questions about how tightly access should be controlled. It is not thought to be possible to re-identify patients from somatic variant data. However, somatic variant detection pipelines can mistakenly identify germline variants...
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