Article
Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.
Human mutation - 1 Dec 2007
Ting Jason C, Roberson Elisha D O, Miller Nathaniel D, Lysholm-Bernacchi Alana, Stephan Dietrich A, Capone George T, Ruczinski Ingo, Thomas George H, Pevsner Jonathan
Abstract excerpt
A variety of alterations occur in chromosomal DNA, many of which can be detected using high density single nucleotide polymorphism (SNP) microarrays. These include deletions and duplications (assessed by observing changes in copy number) and regions of homozygosity. The analysis of SNP data from trios can provide an additional category of information about the nature and origin of inheritance patterns, including...
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