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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...
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| 出版年: | Genome Med |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2020
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| 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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