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nanotatoR: a tool for enhanced annotation of genomic structural variants

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 genome ass...

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Detalhes bibliográficos
Publicado no:BMC Genomics
Main Authors: Bhattacharya, Surajit, Barseghyan, Hayk, Délot, Emmanuèle C., Vilain, Eric
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7789800/
https://ncbi.nlm.nih.gov/pubmed/33407088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-020-07182-w
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