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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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A Galaxy-based bioinformatics pipeline for optimised, streamlined microsatellite development from Illumina
Sarah M Griffiths1, Graeme Fox1, Peter J Briggs2
11Faculty of Life Sciences, University of Manchester, Manchester, M13 9PT UK.
Summary
We developed a user-friendly bioinformatics pipeline to streamline microsatellite marker development using next-generation sequencing (NGS) data. This tool simplifies the process for researchers, making genetic marker creation more accessible and efficient.
Area of Science:
- Ecology and Conservation Biology
- Bioinformatics and Genomics
- Molecular Ecology
Background:
- Microsatellites are valuable genetic markers for ecological and conservation studies.
- Traditional microsatellite development is costly, time-consuming, and taxa-specific.
- Next-generation sequencing (NGS) offers a faster, cheaper alternative, but bioinformatics tools can be complex for new users.
Purpose of the Study:
- To develop an optimized and user-friendly bioinformatics pipeline for microsatellite marker development from NGS data.
- To streamline the design of microsatellite panels using a graphical user interface.
- To make microsatellite development more accessible to researchers new to bioinformatics.
Main Methods:
- Development of an open-source bioinformatics pipeline integrated into the Galaxy platform.
- Utilized existing software (Trimmomatic, FastQC, Primer3) and novel tools (Pal_finder, PANDAseq, Pal_filter).
- Pipeline processes Illumina paired-end sequences for quality filtering, locus identification, primer design, read assembly, and locus filtering.
Main Results:
- A comprehensive bioinformatics pipeline for microsatellite development was created and packaged within Galaxy.
- The pipeline integrates multiple established and novel programs to automate and optimize marker design.
- A pre-configured Galaxy instance is available, providing a user-friendly graphical interface for the entire process.
Conclusions:
- The developed pipeline significantly optimizes and simplifies microsatellite marker development from NGS data.
- The Galaxy-based platform enhances accessibility and usability for researchers, regardless of their bioinformatics expertise.
- This tool facilitates broader application of microsatellites in ecological and conservation research.

