Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
نویسندگان
چکیده
منابع مشابه
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
Recent work has demonstrated an unexpected prevalence of copy number variation in the human genome, and has highlighted the part this variation may play in predisposition to common phenotypes. Some important genes vary in number over a high range (e.g. DEFB4 , which commonly varies between two and seven copies), and have posed formidable technical challenges for accurate copy number typing, so ...
متن کاملAutomated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation
MOTIVATION Genomic copy number variation (CNV) can influence susceptibility to common diseases. High-throughput measurement of gene copy number on large numbers of samples is a challenging, yet critical, stage in confirming observations from sequencing or array Comparative Genome Hybridization (CGH). The paralogue ratio test (PRT) is a simple, cost-effective method of accurately determining cop...
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This study describes a new tool for accurate and reliable high-throughput detection of copy number variation in the human genome. We have constructed a large-insert clone DNA microarray covering the entire human genome in tiling path resolution that we have used to identify copy number variation in human populations. Crucial to this study has been the development of a robust array platform and ...
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PCR revolutionized genetic analysis by enabling selective amplification of targeted sequences that, as a consequence of massive enrichment, could undergo genetic analysis by a variety of methodologies. The subsequent addition of a double-stranded DNA intercalating dye to the master mix was a key adaptation to PCR that allowed monitoring of amplification in real time, thus enabling quantificatio...
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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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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 2007
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/gkl1089