nanotatoR: a tool for enhanced annotation of genomic structural variants

Abstract Background 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 ge...

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Bibliographic Details
Main Authors: Surajit Bhattacharya, Hayk Barseghyan, Emmanuèle C. Délot, Eric Vilain
Format: Article
Language:English
Published: BMC 2021-01-01
Series:BMC Genomics
Subjects:
Online Access:https://doi.org/10.1186/s12864-020-07182-w