Accurate identification of structural variations from cancer samples.
Brief Bioinform
; 25(1)2023 11 22.
Article
en En
| MEDLINE
| ID: mdl-38233091
ABSTRACT
Structural variations (SVs) are commonly found in cancer genomes. They can cause gene amplification, deletion and fusion, among other functional consequences. With an average read length of hundreds of kilobases, nano-channel-based optical DNA mapping is powerful in detecting large SVs. However, existing SV calling methods are not tailored for cancer samples, which have special properties such as mixed cell types and sub-clones. Here we propose the Cancer Optical Mapping for detecting Structural Variations (COMSV) method that is specifically designed for cancer samples. It shows high sensitivity and specificity in benchmark comparisons. Applying to cancer cell lines and patient samples, COMSV identifies hundreds of novel SVs per sample.
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Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Genoma Humano
/
Neoplasias
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Año:
2023
Tipo del documento:
Article