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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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書目詳細資料
發表在:BMC Genomics
Main Authors: Bhattacharya, Surajit, Barseghyan, Hayk, Délot, Emmanuèle C., Vilain, Eric
格式: Artigo
語言:Inglês
出版: BioMed Central 2021
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在線閱讀: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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