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Updated: May 31, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
Genome-wide genetic marker discovery and genotyping using next-generation sequencing
John W Davey1, Paul A Hohenlohe, Paul D Etter
1Institute of Evolutionary Biology, University of Edinburgh, Ashworth Laboratories, King's Buildings, West Mains Road, Edinburgh, EH9 3JT, UK. john.davey@ed.ac.uk
Next-generation sequencing (NGS) offers powerful tools for genetic marker discovery and assessment in populations. This review details best practices for reduced-representation sequencing methods applicable to both model and non-model species.
Area of Science:
- Genomics
- Population Genetics
- Molecular Biology
Background:
- Next-generation sequencing (NGS) has transformed biological research, enabling advanced genomic and transcriptomic analyses.
- NGS technologies are crucial for identifying, validating, and evaluating genetic markers within populations.
Purpose of the Study:
- To review and discuss best practices for NGS-based genome-wide genetic marker development and genotyping.
- To highlight methods utilizing restriction enzyme digestion for target genome complexity reduction.
Main Methods:
- Review of reduced-representation sequencing (RRLs, CRoPS).
- Discussion of restriction-site-associated DNA sequencing (RAD-seq).
- Exploration of low-coverage genotyping techniques.
Main Results:
- These methods effectively reduce genome complexity for targeted analysis.
- Applicable to species with and without existing reference genomes.
- Facilitates genetic marker discovery and genotyping across diverse organisms.
Conclusions:
- Best practices for NGS-based genetic marker development are presented.
- These techniques offer versatile solutions for population genetics studies.
- Enables genomic research in non-model organisms lacking reference sequences.
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