Detecting copy number variants and runs of homozygosity on a single array — challenges and applications

Tuesday 12 March 2013

In constitutional genetics research, analysis of single nucleotide polymorphisms (SNPs) provides invaluable insight into a number of conditions. When analysed in conjunction with copy number variation (CNV) data from array comparative genomic hybridisation (aCGH) arrays, this insight can aid in the identification of additional genetic variants to those yielded by the CNV data alone. This review explores the various applications of combined CNV + SNP arrays, the challenges faced in their implementation and their many advantages such as the easy to interpret, flexible data they provide. 

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