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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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Detalles Bibliográficos
Autores principales: Bhattacharya, Surajit, Barseghyan, Hayk, Délot, Emmanuèle C., Vilain, Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789800/
https://www.ncbi.nlm.nih.gov/pubmed/33407088
http://dx.doi.org/10.1186/s12864-020-07182-w