Article

Accurate identification of structural variations from cancer samples

2023-06-04

Abstract excerpt

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...

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Literature Corpus work: 3b0591a9-e88d-5442-91e9-adf8f3ab733a
DOI: 10.1101/2023.05.31.543104

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