Structural variant analysis of a cancer reference cell line sample using multiple sequencing technologies.

ABSTRACT:

Background

The cancer genome is commonly altered with thousands of structural rearrangements including insertions, deletions, translocation, inversions, duplications, and copy number variations. Thus, structural variant (SV) characterization plays a paramount role in cancer target identification, oncology diagnostics, and personalized medicine. As part of the SEQC2 Consortium effort, the present study established and evaluated a consensus SV call set using a breast cancer reference cell line and matched normal control derived from the same donor, which were used in our companion benchmarking studies as reference samples.

Results

We systematically investigated somatic SVs in the reference cancer cell line by comparing to a matched normal cell line using multiple NGS platforms

SUBMITTER: Talsania K 

PROVIDER: S-EPMC9746098 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature