Detection of Copy Number Variation by SNP-Allelotyping
نویسندگان
چکیده
منابع مشابه
De novo detection of copy number variation by co-assembly
MOTIVATION Comparing genomes of individual organisms using next-generation sequencing data is, until now, mostly performed using a reference genome. This is challenging when the reference is distant and introduces bias towards the exact sequence present in the reference. Recent improvements in both sequencing read length and efficiency of assembly algorithms have brought direct comparison of in...
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introduction recently, genomic research in livestock is focused on genomic variation and its effect on phenotypic performance in economic traits. copy number variation (cnv) is one of these variations in genome including insertion, deletion and duplication of 1 kb to 1 mb segment with more than 90% similarity. cnvs can change gene structure and dosage, can regulate gene expression and function ...
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Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...
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MOTIVATION Genome-wide association studies (GWAS) generate relationships between hundreds of thousands of single nucleotide polymorphisms (SNPs) and complex phenotypes. The contribution of the traditionally overlooked copy number variations (CNVs) to complex traits is also being actively studied. To facilitate the interpretation of the data and the designing of follow-up experimental validation...
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The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valuable in unraveling the genetic basis of human diseases. Hence, a large number of algorithms have been developed for the detection of CNVs in SNP array signal intensity data. Using the European and African HapMap trio data, we undertook a comparative evaluation of six commonly used CNV detection s...
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ژورنال
عنوان ژورنال: Journal of Neurogenetics
سال: 2014
ISSN: 0167-7063,1563-5260
DOI: 10.3109/01677063.2014.923884