Article

Detection of genome structural variation in normal cells and tissues by single molecule sequencing

2024-08-08

Abstract excerpt

Detecting somatic mutations in normal cells and tissues is notoriously challenging due to their low abundance, orders of magnitude below the sequencing error rate. While several techniques, such as single-cell and single-molecule sequencing, have been developed to identify somatic mutations, they are insufficient for detecting genomic structural variants (SVs), which have a significantly greater impact than single...

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Literature Corpus work: bcf2d24e-be36-5868-b6b8-087dca1cc793
DOI: 10.1101/2024.08.08.607188

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