Comprehensive bioinformatics analysis of selected germline variants of uncertain significance identified in a cohort of Sri Lankan hereditary breast cancer patients

Comprehensive bioinformatics analysis of selected germline variants of uncertain significance identified in a cohort of Sri Lankan hereditary breast cancer patients

Abstract Background Next-generation sequencing (NGS)-based testing is a cost-effective method for identifying pathogenic germline genetic variations in cancer-predisposing genes in hereditary breast cancer. However, many of the variants detected through NGS are classified as variants of uncertain si...

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Bibliographic Details
Main Authors: Nipuni D. S. Arachchige, Nirmala D. Sirisena, Sumadee De Silva, Kanishka S. Senathilake, Mishal Faizan, Vajira H. W. Dissanayake
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Human Genomics
Subjects:
Bioinformatics
Breast cancer
Genomics
Next-generation sequencing
Protein modeling
VUS
Online Access:https://doi.org/10.1186/s40246-024-00703-8
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