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Nature Genetics, published online 07 Sep 2008
Nat Genet 40 (10), 1166-74 (Oct 2008)
Nature Genetics, published online 07 Sep 2008
Accurate and complete measurement of single nucleotide (SNP) and copy number (CNV) variants, both common and rare, will be required to understand the role of genetic variation in disease. We present Birdsuite, a four-stage analytical framework instantiated in software for deriving integrated and mutually consistent copy number and SNP genotypes. The method sequentially assigns copy number across regions of common copy number polymorphisms (CNPs), calls genotypes of SNPs, identifies rare CNVs via a hidden Markov model (HMM), and generates an integrated sequence and copy number genotype at every locus (for example, including genotypes such as A-null, AAB and BBB in addition to AA, AB and BB calls). Such genotypes more accurately depict the underlying sequence of each individual, reducing the rate of apparent mendelian inconsistencies. The Birdsuite software is applied here to data from the Affymetrix SNP 6.0 array. Additionally, we describe a method, implemented in PLINK, to utilize these combined SNP and CNV genotypes for association testing with a phenotype.
www.ploscompbiol.org
BMC genetics 9 (1), 27 (28 Mar 2008)
Nature 451 (7181), 998-1003 (21 Feb 2008)
Nature Genetics, published online 07 Sep 2008
Nature Genetics, published online 07 Sep 2008
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