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

Brain calcification in AGS Basal ganglia calcification in the brain of a patient with Aicardi-Goutières syndrome. This recessive disorder shows many similarities to SLE, and results from intracellular nuclease dysfunction.

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