CNVeM: Copy Number Variation Detection Using Uncertainty of Read Mapping
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چکیده
منابع مشابه
CNVeM: Copy Number Variation Detection Using Uncertainty of Read Mapping
Copy number variations (CNVs) are widely known to be an important mediator for diseases and traits. The development of high-throughput sequencing (HTS) technologies has provided great opportunities to identify CNV regions in mammalian genomes. In a typical experiment, millions of short reads obtained from a genome of interest are mapped to a reference genome. The mapping information can be used...
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Structural variation is an important class of genetic variation in mammals. High-throughput sequencing (HTS) technologies promise to revolutionize copy-number variation (CNV) detection but present substantial analytic challenges. Converging evidence suggests that multiple types of CNV-informative data (e.g. read-depth, read-pair, split-read) need be considered, and that sophisticated methods ar...
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ژورنال
عنوان ژورنال: Journal of Computational Biology
سال: 2013
ISSN: 1066-5277,1557-8666
DOI: 10.1089/cmb.2012.0258