Article
npInv: accurate detection and genotyping of inversions using long read sub-alignment.
BMC bioinformatics - 13 Jul 2018
Shao Haojing, Ganesamoorthy Devika, Duarte Tania, Cao Minh Duc, Hoggart Clive J, Coin Lachlan J M
Abstract excerpt
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 tool specifically for detecting and genotyping NAHR inversion using long read sub-alignment of long read sequencing...
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