Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.

ABSTRACT:

Background

A variety of diseases are caused by chromosomal abnormalities such as aneuploidies (having an abnormal number of chromosomes), microdeletions, microduplications, and uniparental disomy. High density single nucleotide polymorphism (SNP) microarrays provide information on chromosomal copy number changes, as well as genotype (heterozygosity and homozygosity). SNP array studies generate multiple types of data for each SNP site, some with more than 100,000 SNPs represented on each array. The identification of different classes of anomalies within SNP data has been challenging.

Results

We have developed SNPscan, a web-accessible tool to analyze and visualize high density SNP data. It enables researchers (1) to visually and quantitatively assess the quality of user-gener

SUBMITTER: Ting JC 

PROVIDER: S-EPMC1382255 | biostudies-literature | 2006 Jan

REPOSITORIES: biostudies-literature