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Internal tandem duplication detection software tools | Whole-exome sequencing data analysis

Detection of tandem duplication within coding exons, referred to as internal tandem duplication (ITD), remains challenging due to inefficiencies in alignment of ITD-containing reads to the reference genome. There is a critical need to develop…
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Pindel
Desktop

Pindel

Detects breakpoints of large deletions, medium sized insertions, inversions,…

Detects breakpoints of large deletions, medium sized insertions, inversions, tandem duplications and other structural variants at single-based resolution from next-generation sequence data. Pindel…

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ITD assembler
Desktop

ITD assembler

A highly sensitive algorithm for identification of (partial) tandem duplication…

A highly sensitive algorithm for identification of (partial) tandem duplication events from massively parallel sequencing data. ITD Assembler evaluates all unmapped and partially mapped reads from…

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Genomon…
Desktop

Genomon ITDetector

An analytical tool for genome-wide detection of somatic internal tandem…

An analytical tool for genome-wide detection of somatic internal tandem duplications (ITDs). After evaluating the sensitivity and precision of the proposed approach using synthetic data, we have…

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SV-AUTOPILOT
Desktop

SV-AUTOPILOT Structural Variation AUTOmated PIpeLine Optimization Tool

Standardizes the Structural Variation (SV) detection pipeline. SV-AUTOPILOT is…

Standardizes the Structural Variation (SV) detection pipeline. SV-AUTOPILOT is a pipeline that can be used on existing computing infrastructure in the form of a Virtual Machine (VM) Image. It…

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DB2
Desktop

DB2 Distribution Based detection of Duplication Boundaries

Uses discordantly aligned reads, taking into account the distribution of…

Uses discordantly aligned reads, taking into account the distribution of fragment length to predict tandem duplications along with their breakpoints on a donor genome. DB2 method fine tunes the…

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