AutoSNPa
Visual analysis of SNP data
Autozygosity mapping of recessive diseases in consanguineous families is conveniently performed using high-density SNP arrays. Data analysis is the rate-limiting step for such projects.
AutoSNPa presents Affymetrix SNP data graphically, in a colour-coded fashion that allows the rapid identification of autozygous chromosomal regions.
Tutorial (PDF, 1 MB) explaining in detail all the capabilities of AutoSNPa.
Download the current version of AutoSNPa.
AutoSNPa was written by Ian Carr. It runs on Microsoft Windows, using the .NET framework.
Carr IM, Flintoff K, Taylor GR, Markham AF & Bonthron DT (2006). Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Human Mutation, 27:1041-6: PubMed
Leber congenital amaurosis is the commonest form of congenital blindness. One gene, LCA5 on Chr. 6q14, encodes the ciliary protein lebercilin. The image shows lebercilin co-localized with tubulin in cultured cells.