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...

وصف كامل

التفاصيل البيبلوغرافية

الحاوية / القاعدة:	Human Genomics
المؤلفون الرئيسيون:	Nipuni D. S. Arachchige, Nirmala D. Sirisena, Sumadee De Silva, Kanishka S. Senathilake, Mishal Faizan, Vajira H. W. Dissanayake
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	BMC 2025-02-01
الموضوعات:	Bioinformatics Breast cancer Genomics Next-generation sequencing Protein modeling VUS
الوصول للمادة أونلاين:	https://doi.org/10.1186/s40246-024-00703-8