biostudies-literatureTing JCNICHD NIH HHSNCI NIH HHS25https://www.ebi.ac.uk/biostudies/studies/S-EPMC1382255biostudies-literatureUnknown7<h4>Background</h4>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.<h4>Results</h4>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-generBMC bioinformaticsAnalysis and visualization of chromosomal abnormalities in SNP data with SNPscan.PMC1382255R01 CA074841R29 CA074841R01 HD046598P30 HD024061HD24061CA 074841Pevsner JThomas GHRuczinski IYe YTing JCfalseAnalysis and visualization of chromosomal abnormalities in SNP data with SNPscan.<h4>Background</h4>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.<h4>Results</h4>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-gener2006-01-01T00:00:00Z2006 Jan2025-04-04T12:37:00.525Z2019-06-05T17:06:03ZS-EPMC13822551642069410.1186/1471-2105-7-25