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...

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Vydáno v:BMC Bioinformatics
Hlavní autoři: Shao, Haojing, Ganesamoorthy, Devika, Duarte, Tania, Cao, Minh Duc, Hoggart, Clive J., Coin, Lachlan J. M.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Methodology Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6044046/
https://ncbi.nlm.nih.gov/pubmed/30001702
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-018-2252-9
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