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A pipeline for complete characterization of complex germline rearrangements from long DNA reads

BACKGROUND: Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints. It is important to fully understand the order and orientation of rearranged fragments, with precise breakpo...

詳細記述

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書誌詳細
出版年:Genome Med
主要な著者: Mitsuhashi, Satomi, Ohori, Sachiko, Katoh, Kazutaka, Frith, Martin C., Matsumoto, Naomichi
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7393826/
https://ncbi.nlm.nih.gov/pubmed/32731881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-00762-1
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