Inference of chromosome-specific copy numbers using population haplotypes
نویسندگان
چکیده
منابع مشابه
Y chromosome haplotypes and testicular cancer in the English population.
Testicular cancer (TC) affects 1 in 500 males and is the most common malignancy among young men in western European populations; for example, in Denmark 1% of all men now develop TC. More than 97% of testes cancers are germ cell tumours. Although the aetiology of these malignancies is unknown, there is accumulating evidence of an intrauterine stage of TC development that may involve both enviro...
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High-throughput genotyping and sequencing technologies can generate dense sets of genetic markers for large numbers of individuals. For most species, these data will contain many markers in linkage disequilibrium (LD). To utilize such data for population structure inference, we investigate the use of haplotypes constructed by combining the alleles at single-nucleotide polymorphisms (SNPs). We i...
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Single nucleotide polymorphism (SNP) and copy number variation (CNV) are both widespread characteristic of the human genome, but are often called separately on common genotyping platforms. To capture integrated SNP and CNV information, methods have been developed for calling allelic specific copy numbers or so called copy number polymorphism (CNP), using limited inter-marker correlation. In thi...
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As one of the major glutathione conjugation enzymes, GSTM1 detoxifies a number of drugs and xenobiotics. Its expression and activity have been shown to correlate both with cancer risks and drug resistance. Through a genome-wide association study, we identified a significant association between HapMap SNP rs366631 and GSTM1 expression. In this study, utilizing lymphoblastoid cell lines derived f...
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Copy number variants (CNV) can be called from SNP-arrays; however, few studies have attempted to combine both CNV and SNP calls to test for association with complex diseases. Even when SNPs are located within CNVs, two separate association analyses are necessary, to compare the distribution of bi-allelic genotypes in cases and controls (referred to as SNP-only strategy) and the number of copies...
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ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2011
ISSN: 1471-2105
DOI: 10.1186/1471-2105-12-194