Allele-specific copy number profiling by next-generation DNA sequencing
نویسندگان
چکیده
منابع مشابه
Allele-specific copy number profiling by next-generation DNA sequencing
The progression and clonal development of tumors often involve amplifications and deletions of genomic DNA. Estimation of allele-specific copy number, which quantifies the number of copies of each allele at each variant loci rather than the total number of chromosome copies, is an important step in the characterization of tumor genomes and the inference of their clonal history. We describe a ne...
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MOTIVATION Copy number variations (CNVs) are a major source of genomic variability and are especially significant in cancer. Until recently microarray technologies have been used to characterize CNVs in genomes. However, advances in next-generation sequencing technology offer significant opportunities to deduce copy number directly from genome sequencing data. Unfortunately cancer genomes diffe...
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Allele-specific copy number analysis (ASCN) from next generation sequencing (NGS) data can greatly extend the utility of NGS beyond the identification of mutations to precisely annotate the genome for the detection of homozygous/heterozygous deletions, copy-neutral loss-of-heterozygosity (LOH), allele-specific gains/amplifications. In addition, as targeted gene panels are increasingly used in c...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 2014
ISSN: 1362-4962,0305-1048
DOI: 10.1093/nar/gku1252