Incidental Finding in Copy Number Variation (CNV) Analysis
نویسندگان
چکیده
منابع مشابه
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis.
Structural genetic variation, including copy-number variation (CNV), constitutes a substantial fraction of total genetic variability and the importance of structural genetic variants in modulating human disease is increasingly being recognized. Early successes in identifying disease-associated CNVs via a candidate gene approach mandate that future disease association studies need to include str...
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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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the autism spectrum disorders (asds) are common neurodevelopmental disorders estimated to affect 1 in 88 children. asd is a complex condition, result of genetic, epigenetic and environmental factors. however, genetic comopnent seems to play an important role. the loss/gain of 1kb and more nucleotides, copy number variation (cnv), is the significant genetic factor in the etiology of asd. the cnv...
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BACKGROUND Aging is a biological process strongly determined by genetics. However, only a few single nucleotide polymorphisms (SNPs) have been reported to be consistently associated with aging. While investigating whether copy number variations (CNVs) could fill this gap, we focused on CNVs that have not been studied in previous SNP-based searches via tagging SNPs. METHODS TaqMan qPCR assays ...
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ژورنال
عنوان ژورنال: Current Genetic Medicine Reports
سال: 2014
ISSN: 2167-4876
DOI: 10.1007/s40142-014-0050-x