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Recapitulation of a published colorectal cancer (CRC) study. As a proof-of-concept case study, GeMSTONE recapitulated every step in the original Colorectal-cancer prioritization workflow1, rescuing 27 out of 28 candidate variants from the ∼30,000 variants in the raw whole exome sequencing dataset and hitting all hereditary CRC and CRC GWAS variants.
