Article
Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.
BMC research notes - 15 Feb 2025
Eberth Sonja, Koblitz Julia, Steenpaß Laura, Pommerenke Claudia
Abstract excerpt
OBJECTIVE: RNA-seq delivers valuable insights both to transcriptional patterns and mutational landscapes for transcribed genes. However, as tumour cell lines frequently lack their matched-normal counterpart, variant calling without the paired normal sample is still challenging. In order to exclude variants of common genetic variation without a matched-normal control, filtering strategies need to be developed to...
Read the complete abstract on PubMedTopics
- Humans
- Breast Neoplasms
- Cell Line, Tumor
- Female
- RNA-Seq
- Polymorphism, Single Nucleotide
- Genetic Variation
