A robust statistical method for case-control association testing with copy number variation
نویسندگان
چکیده
منابع مشابه
Genetic Association Studies of Copy-Number Variation: Should Assignment of Copy Number States Precede Testing?
Recently, structural variation in the genome has been implicated in many complex diseases. Using genomewide single nucleotide polymorphism (SNP) arrays, researchers are able to investigate the impact not only of SNP variation, but also of copy-number variants (CNVs) on the phenotype. The most common analytic approach involves estimating, at the level of the individual genome, the underlying num...
متن کاملCNVRuler: a copy number variation-based case-control association analysis tool
SUMMARY The method for genome-wide association study (GWAS) based on copy number variation (CNV) is not as well established as that for single nucleotide polymorphism (SNP)-GWAS. Although there are several tools for CNV association studies, most of them do not provide appropriate definitions of CNV regions (CNVRs), which are essential for CNV-association studies. Here we present a user-friendly...
متن کاملExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data
Copy number variations (CNVs) are structural variants associated with human diseases. Recent studies verified that disease-related genes are based on the extraction of rare de novo and transmitted CNVs from exome sequencing data. The need for more efficient and accurate methods has increased, which still remains a challenging problem due to coverage biases, as well as the sparse, small-sized, a...
متن کاملA hierarchical clustering method for estimating copy number variation.
Microarray technologies allow for simultaneous measurement of DNA copy number at thousands of positions in a genome. Gains and losses of DNA sequences reveal themselves through characteristic patterns of hybridization intensity. To identify change points along the chromosomes, we develop a marker clustering method which consists of 2 parts. First, a "circular clustering tree test statistic" att...
متن کاملParseCNV integrative copy number variation association software with quality tracking
A number of copy number variation (CNV) calling algorithms exist; however, comprehensive software tools for CNV association studies are lacking. We describe ParseCNV, unique software that takes CNV calls and creates probe-based statistics for CNV occurrence in both case-control design and in family based studies addressing both de novo and inheritance events, which are then summarized based on ...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2008
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.206