Results for "indels"
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Manta calls structural variants (SVs) and indels from mapped paired-end sequencing reads. It is optimized for analysis of germline variation in small sets of individuals and somatic variation in tumor/normal sample pairs. Manta discovers, assembles and scores large-scale SVs, medium-sized indels ...Tags: Manta, rapid, detection, structural, variants, indels, germline, cancer, sequencing, applications
2169 days ago
SvABA: Genome-wide detection of structural variants and indels by local assembly
SvABA is a method for detecting structural variants in sequencing data using genome-wide local assembly. Under the hood, SvABA uses a custom implementation of SGA (String Graph Assembler) by Jared Simpson, and BWA-MEM by Heng Li. Contigs are assembled for every 25kb window (wi...Tags: SvABA, Genome-wide, detection, structural, variants, indels, local, assembly
1931 days ago
- cisMuton is a caller that detects SNVs/indels by comparing target (foreground) and control (background) samples. cisMuton calls mutations from target capture regions, which are defined by the overlapping regions of ${GROUP}.target.bed and ${GROUP}.gene.bed. Please read the Q...
Tags: caller, detects, SNVs, indels, comparing, target, foreground, control, background, samples
1546 days ago
