Article

NanoVar: Accurate Characterization of Patients’ Genomic Structural Variants Using Low-Depth Nanopore Sequencing

2019-06-17

Abstract excerpt

Despite the increasing relevance of structural variants (SV) in the development of many human diseases, progress in novel pathological SV discovery remains impeded, partly due to the challenges of accurate and routine SV characterization in patients. The recent advent of third-generation sequencing (3GS) technologies brings promise for better characterization of genomic aberrations by virtue of having longer reads...

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Literature Corpus work: 9d1e8062-6f36-53a8-9e2f-3ef3007b3a20
DOI: 10.1101/662940

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