npInv: accurate detection and genotyping of inversions using long read sub-alignment

npInv: accurate detection and genotyping of inversions using long read sub-alignment

Abstract 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 no...

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Bibliographic Details
Main Authors: Haojing Shao, Devika Ganesamoorthy, Tania Duarte, Minh Duc Cao, Clive J. Hoggart, Lachlan J. M. Coin
Format: Article
Language:English
Published: BMC 2018-07-01
Series:BMC Bioinformatics
Subjects:
Inversion
Non allelic homologous recombination (NAHR)
Inverted repeat (IR)
Split read
Long read sequencing
NA12878
Online Access:http://link.springer.com/article/10.1186/s12859-018-2252-9

Internet

http://link.springer.com/article/10.1186/s12859-018-2252-9

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