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Copy number variations (CNVs) and polymorphisms (CNPs) have only recently gained the genetic community's attention. Conservative estimates have shown that CNVs and CNPs might affect more than 10% of the genome and that they may be at least as important as single nucleotide polymorphisms in assessing human variability. Widely used tools for CNP analysis have been implemented in Birdsuite and PLINK for the purpose of conducting genetic association studies based on the unpartitioned total number of CNP copies provided by the intensities from Affymetrix's Genome-Wide Human SNP Array. Here, we are interested in partitioning copy number variations and polymorphisms in extended pedigrees for the purpose of linkage analysis on familial data.
Pubmed ID: 20438641 RIS Download
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Software application that aims to speed up the preparation of linkage data files passed on to the Alohomora software for data from the Affymetrix or Illumina assays. Chip2Spell gathers the information necessary to supplement the genotype data (such as the genetic map of the markers and the population-specific allele frequencies) from publicly available annoation files from Affymetrix and Illumina. The program formats the genotype data for input into the Alohomora program. (entry from Genetic Analysis Software)
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