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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...
Autores principales: | Bhattacharya, Surajit, Barseghyan, Hayk, Délot, Emmanuèle C., Vilain, Eric |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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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 |
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