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npInv: accurate detection and genotyping of inversions using long read sub-alignment
BACKGROUND: Detection of genomic inversions remains challenging. Many existing methods primarily target inzversions with a non repetitive breakpoint, leaving inverted repeat (IR) mediated non-allelic homologous recombination (NAHR) inversions largely unexplored. RESULT: We present npInv, a novel too...
Autores principales: | Shao, Haojing, Ganesamoorthy, Devika, Duarte, Tania, Cao, Minh Duc, Hoggart, Clive J., Coin, Lachlan J. M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044046/ https://www.ncbi.nlm.nih.gov/pubmed/30001702 http://dx.doi.org/10.1186/s12859-018-2252-9 |
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