In this study, we used next generation sequencing combined with continuous culture to track the mutation rate of ~200 variants of Msh2 in Saccharomyces cerevisiae in order to determine pathogenicity.
Additional file 4 SNPs included in polygenic risk score (PRS) computation, corresponding per-allele log odds ratios, and comparison of allele frequencies between patients recruited by Sheba Medical Ce
BRCA1 and BRCA2 (BRCA) play essential roles in maintaining genome stability. Rapidly evolving human BRCA generates oncogenic variants causing high cancer risk. BRCA variation is ethnic-specific in ref
Germline blood DNA sequencing data generated in routine diagnostics of hereditary cancer using the I2HCP gene panel (~135 genes). There are 130 samples sequenced in a MiSeq machine and 108 sequenced i
