Related Experiment Video
Updated: Aug 30, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
SNP cherry picker: maximizing the chance of finding an association with a disease SNP
Mark Harris1, Jeremy M R Martin, John F Peden
1Oxagen Ltd, 91 Milton Park, Abingdon, Oxon OX14 4RY, UK. SD@oxagen.co.uk
Unlabelled:
The high cost of genotyping single nucleotide polymorphisms (SNPs) generally prohibits the systematic mapping of entire genetic linkage regions in order to find the polymorphisms associated with increased risk of disease. In practice, SNPs are selected at approximately equal spacing across the linkage region to try to locate a SNP lying in the haplotype block of the disease SNP. The size of the haplotype block may not be known, however, and SNPs taken from public domain sources may not in fact be polymorphic. Our program will choose a subset of the SNPs in a linkage region so as to maximize the expected proportion of the sequence that lies within a given distance of a real SNP.
Availability:
The software is available, free of charge, for academic use on request from the authors.
Supplementary Information:
www.oxagen.co.uk
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