Article

Localization of balanced chromosome translocation breakpoints by long-read sequencing on the Oxford Nanopore platform

2018-09-18

Abstract excerpt

Structural variants (SVs) in genomes, including translocations, inversions, insertions, deletions and duplications, remain difficult to be detected reliably by traditional genomic technologies. In particular, balanced translocations and inversions cannot be detected by microarrays since they do not alter chromosome copy numbers; they cannot be reliably detected by short-read sequencing either, since many breakpoin...

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Literature Corpus work: 072067f7-c024-567b-b014-7046fdb8c320
DOI: 10.1101/419531

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