Reconstructing CNV genotypes using segregation analysis: combining pedigree information with CNV assay
نویسندگان
چکیده
منابع مشابه
CNVassoc: Association analysis of CNV data
2 CNV from a single probe 2 2.1 The data . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 2.2 Inferring copy number status from signal data . . . . . . . . . 8 2.2.1 From univariate signal intensity . . . . . . . . . . . . . 8 2.2.2 From other algorithms . . . . . . . . . . . . . . . . . . 9 2.2.3 From predetermined thresholds . . . . . . . . . . . . . 9 2.3 Summarizing information ....
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In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for genomewide CNV discovery. Recently, a number of CNV defining algorithms from SNP genotyping data have been developed; however, due to the fundamental limitation of SNP genotyping data...
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Copy number variants (CNVs), characterized in recent years by cutting-edge technology, add complexity to our knowledge of the human genome. CNVs contribute not only to human diversity but also to different kinds of diseases including neurodevelopmental delay, autism spectrum disorder and neuropsychiatric diseases. Interestingly, many pathogenic CNVs are shared among these diseases. Studies sugg...
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MOTIVATION Identifying functional relation of copy number variation regions (CNVRs) and gene is an essential process in understanding the impact of genotypic variations on phenotype. There have been many related works, but only a few attempts were made to normal populations. RESULTS To analyze the functions of genome-wide CNVRs, we applied a novel correlation measure called Correlation based ...
متن کاملCNV-CH: A Convex Hull Based Segmentation Approach to Detect Copy Number Variations (CNV) Using Next-Generation Sequencing Data
Copy number variation (CNV) is a form of structural alteration in the mammalian DNA sequence, which are associated with many complex neurological diseases as well as cancer. The development of next generation sequencing (NGS) technology provides us a new dimension towards detection of genomic locations with copy number variations. Here we develop an algorithm for detecting CNVs, which is based ...
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ژورنال
عنوان ژورنال: Genetics Selection Evolution
سال: 2010
ISSN: 1297-9686
DOI: 10.1186/1297-9686-42-34