官方服务：
资源简介：
To screen the patients with hereditary cancer in Sri Lanka
应用场景：
创建时间：
2022-09-14
相关数据集
Multiplexed Mutation Rate Assessment of Msh2 Variants associated with Hereditary Nonpolyposis Colorectal Cancer
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.
NIAID Data Ecosystem70
Supplementary Material for: An Electronic Health Record Tool Increases Genetic Counseling Referral of Individuals at Hereditary Cancer Risk: An Intervention Study
Introduction: There is widespread under-identification of individuals at hereditary cancer risk despite national guidelines calling for screening. We evaluated the utilization of a tool embedded in th
NIAID Data Ecosystem60
f55c7ef3-bc0e-4a9f-842b-dd4094ce327e - samples
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
NIAID Data Ecosystem30
Additional file 3: of Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations
Table S2. List of Pathogenic/ Likely Pathogenic variants. (XLSX 51 kb)
DataCite Commons2020-08-27 更新70
Additional file 4 of Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers
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
DataCite Commons2022-06-28 更新40
