Quantitative Analysis of Single Nucleotide Polymorphisms within Copy Number Variation
نویسندگان
چکیده
منابع مشابه
Quantitative Analysis of Single Nucleotide Polymorphisms within Copy Number Variation
BACKGROUND Single nucleotide polymorphisms (SNPs) have been used extensively in genetics and epidemiology studies. Traditionally, SNPs that did not pass the Hardy-Weinberg equilibrium (HWE) test were excluded from these analyses. Many investigators have addressed possible causes for departure from HWE, including genotyping errors, population admixture and segmental duplication. Recent large-sca...
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Over recent years small submicroscopic DNA copy-number variants (CNVs) have been highlighted as an important source of variation in the human genome, human phenotypic diversity and disease susceptibility. Consequently, there is a pressing need for the development of methods that allow the efficient, accurate and cheap measurement of genomic copy number polymorphisms in clinical cohorts. We have...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2008
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0003906