Copy-Number Variations and Human Disease
نویسندگان
چکیده
منابع مشابه
Human subtelomeric copy number variations.
Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions ('Subtelomeric Repeats') comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an impact on the dosage of transcripts embedded w...
متن کاملCopy-number Analysis and Human Disease
We study variations in the human genome that arise when a large segment of the genome is duplicated or deleted. Such copy-number variations, or CNVs, can arise somatically or in the germ line. The former are often seen in cancer and distinguish cancers from the normal cells of the body, in which case, they provide clues for the origin and behavior of the cancers. The latter, germ-line CNVs, dis...
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BACKGROUND Few previous published papers reported copy number variations of genes could affect the predisposition of Graves' disease (GD). Herein, the aim of this study was to explore the association between copy number variations (CNV) profile and GD. METHODS The preliminary copy number microarray used to screen copy number variant genes was performed in 6 GD patients. Five CNV candidate gen...
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Critical functional properties are embedded in the non-coding portion of the human genome. Recent successful studies have shown that variations in distant-acting gene enhancer sequences can contribute to disease. In fact, various disorders, such as thalassaemias, preaxial polydactyly or susceptibility to Hirschsprung's disease, may be the result of rearrangements of enhancer elements. We have a...
متن کاملModeling genetic inheritance of copy number variations
Copy number variations (CNVs) are being used as genetic markers or functional candidates in gene-mapping studies. However, unlike single nucleotide polymorphism or microsatellite genotyping techniques, most CNV detection methods are limited to detecting total copy numbers, rather than copy number in each of the two homologous chromosomes. To address this issue, we developed a statistical framew...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2007
ISSN: 0002-9297
DOI: 10.1086/519220