Article

<i>nanotatoR</i> : A tool for enhanced annotation of genomic structural variants

2020-08-20

Abstract excerpt

Whole genome sequencing is effective at identification of small variants but, because it is based on short reads, assessment of structural variants (SVs) is limited. The advent of Optical Genome Mapping (OGM), which utilizes long fluorescently labeled DNA molecules for de novo genome assembly and SV calling, has allowed for increased sensitivity and specificity in SV detection. However, compared to small variant a...

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Literature Corpus work: 85f13e07-6461-51f7-9ce6-b9ef8029d26d
DOI: 10.1101/2020.08.18.254680

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