SNPsetter
Standardization of SNP data
SNPsetter offers a solution to the following annoying difficulties, encountered when trying to handle real-life SNP data:
- SNP metadata (especially map positions) change with time, so this year's and last year's 50k chip results may not concur.
- For the same reason, coordinates of candidate regions predicted by SNP data may be incorrect when used to browse current genome builds.
- Different patients have been genotyped with different chips: how do you integrate 10k, 50k and 250k marker sets that don't share all the same (or any) SNPs?
- How to generate filtered sets of SNP data with markers at desired map densities or desired heterozygosity?
The capabilities of SNPsetter and the autozygosity mapping application IBDfinder are described in more detail here:
Carr IM, Sheridan E, Hayward BE, Markham AF, Bonthron DT (2009) IBDfinder and SNPsetter: tools for
pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.
Human Mutation, 30: 960-967.
PubMed |
Manuscript |
Published version
Guide explaining how to use SNPsetter:
This is the up-to-date version. A PDF-format guide was included with the earlier download bundles.
Download
The download page has instructions on system requirements and installation of SNPsetter