Detection of Structural Variations and Fusion Genes in Breast Cancer Samples Using Third-Generation Sequencing.

ABSTRACT: Background: Structural variations (SVs) are common genetic alterations in the human genome that could cause different phenotypes and diseases, including cancer. However, the detection of structural variations using the second-generation sequencing was limited by its short read length, which restrained our understanding of structural variations. Methods: In this study, we developed a 28-gene panel for long-read sequencing and employed it to Oxford Nanopore Technologies and Pacific Biosciences platforms. We analyzed structural variations in the 28 breast cancer-related genes through long-read genomic and transcriptomic sequencing of tumor, para-tumor, and blood samples in 19 breast cancer patients. Results: Our results showed that some somatic SVs were recurring among th

SUBMITTER: Hu T 

PROVIDER: S-EPMC9043247 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature