CONTRA: copy number analysis for targeted resequencing
نویسندگان
چکیده
منابع مشابه
CONTRA: copy number analysis for targeted resequencing
MOTIVATION In light of the increasing adoption of targeted resequencing (TR) as a cost-effective strategy to identify disease-causing variants, a robust method for copy number variation (CNV) analysis is needed to maximize the value of this promising technology. RESULTS We present a method for CNV detection for TR data, including whole-exome capture data. Our method calls copy number gains an...
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Targeted resequencing technologies have allowed for efficient and cost-effective detection of genomic variants in specific regions of interest. Although capture sequencing has been primarily used for investigating single nucleotide variants and indels, it has the potential to elucidate a broader spectrum of genetic variation, including copy number variants (CNVs). Various methods exist for dete...
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Copy number variations (CNVs) are one of the main sources of variability in the human genome. Many CNVs are associated with various diseases including cardiovascular disease. In addition to hybridization-based methods, next-generation sequencing (NGS) technologies are increasingly used for CNV discovery. However, respective computational methods applicable to NGS data are still limited. We deve...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2012
ISSN: 1460-2059,1367-4803
DOI: 10.1093/bioinformatics/bts146