Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/real-time qPCR analysis
نویسندگان
چکیده
منابع مشابه
mitochondrial copy number and d-loop variants in pompe patients
objective: pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of neuromuscular diseases. we therefore aimed to compare mitochondrial copy number and mitochondrial displacement-loop sequence variation in infantile and ad...
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The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we review the discovery of copy number varian...
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Background: Origin of midlife copy number variations (CNVs) between tissues in non-genetic diseases is unknown. Such genomic differences caused by post-zygotic events. They might either happen during the life or due to prevalent mosaicism in preimplantation stage. We aim to explore fetal mosaicism and its origins. Materials and Methods: Two apparently normal fetuses were achieved following the ...
متن کاملLarge-scale copy number polymorphism in the human genome.
The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucleotide microarray analysis of 20 individuals revealed a total of 221 copy number differ...
متن کاملCognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects.
BACKGROUND The UK Biobank is a unique resource for biomedical research, with extensive phenotypic and genetic data on half a million adults from the general population. We aimed to examine the effect of neurodevelopmental copy number variants (CNVs) on the cognitive performance of participants. METHODS We used Affymetrix Power Tools and PennCNV-Affy software to analyze Affymetrix microarrays ...
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ژورنال
عنوان ژورنال: BMC Genomics
سال: 2007
ISSN: 1471-2164
DOI: 10.1186/1471-2164-8-167