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Detection of somatic structural variants from short-read next-generation sequencing data.

Briefings in bioinformatics - 20 May 2021

Gong Tingting, Hayes Vanessa M, Chan Eva K F

Abstract excerpt

Somatic structural variants (SVs), which are variants that typically impact >50 nucleotides, play a significant role in cancer development and evolution but are notoriously more difficult to detect than small variants from short-read next-generation sequencing (NGS) data. This is due to a combination of challenges attributed to the purity of tumour samples, tumour heterogeneity, limitations of short-read...

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Gene Frequency
Genetic Variation
High-Throughput Nucleotide Sequencing
Neoplasms
Sequence Analysis, DNA

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PMID: 32379294
DOI: 10.1093/bib/bbaa056
PMCID: PMC8138798

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