Tumor Germline and Somatic Mutations

[PMID:26689913] [Nature Communications]

Patterns and functional implications of rare germline variants across 12 cancer types

“Germline variant calling was conducted using VarScan, GATK and Pindel for TCGA discovery (4,034) and validation (1,627) samples and Women’s Health Initiative (WHI) (1,039) controls.” “We followed stringent filtering strategies for standardizing specificity across the Pan-Cancer somatic variant calls for 3,368 cases in this study” Work from Li Ding.

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