Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan |
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| Authors: | Jason C Ting Ying Ye George H Thomas Ingo Ruczinski Jonathan Pevsner |
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| Affiliation: | (1) Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA;(2) Pathobiology Graduate Program, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA;(3) Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA;(4) Department of Pathology, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA;(5) Department of Genetics, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA;(6) Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland 21205, USA;(7) Department of Neuroscience, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA |
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| 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. |
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