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dc.contributor.authorMacConaill, Laura Eleanor
dc.contributor.authorAldred, Micheala A
dc.contributor.authorLu, Xincheng
dc.contributor.authorLaFramboise, Thomas
dc.date.accessioned2012-02-18T21:34:19Z
dc.date.issued2007
dc.identifier.citationMacConaill, Laura E., Micheala A. Aldred, Xincheng Lu, and Thomas LaFramboise. 2007. Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation. BMC Genomics 8: 211.en_US
dc.identifier.issn1471-2164en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:8191173
dc.description.abstractBackground: The recent discovery of widespread copy number variation in humans has forced a shift away from the assumption of two copies per locus per cell throughout the autosomal genome. In particular, a SNP site can no longer always be accurately assigned one of three genotypes in an individual. In the presence of copy number variability, the individual may theoretically harbor any number of copies of each of the two SNP alleles. Results: To address this issue, we have developed a method to infer a "generalized genotype" from raw SNP microarray data. Here we apply our approach to data from 48 individuals and uncover thousands of aberrant SNPs, most in regions that were previously unreported as copy number variants. We show that our allele-specific copy numbers follow Mendelian inheritance patterns that would be obscured in the absence of SNP allele information. The interplay between duplication and point mutation in our data shed light on the relative frequencies of these events in human history, showing that at least some of the duplication events were recurrent. Conclusion: This new multi-allelic view of SNPs has a complicated role in disease association studies, and further work will be necessary in order to accurately assess its importance. Software to perform generalized genotyping from SNP array data is freely available onlineen_US
dc.language.isoen_USen_US
dc.publisherBioMed Centralen_US
dc.relation.isversionofdoi:10.1186/1471-2164-8-211en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC1934372/pdf/en_US
dash.licenseLAA
dc.titleToward Accurate High-Throughput SNP Genotyping in the Presence of Inherited Copy Number Variationen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalBMC Genomicsen_US
dash.depositing.authorMacConaill, Laura Eleanor
dc.date.available2012-02-18T21:34:19Z
dash.affiliation.otherHMS^Medicine-Brigham and Women's Hospitalen_US
dc.identifier.doi10.1186/1471-2164-8-211*
dash.contributor.affiliatedMacConaill, Laura


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