نتایج جستجو برای: segmental duplications
تعداد نتایج: 25176 فیلتر نتایج به سال:
A various types of repeat patterns are abundant in genomic sequence, and are associated with the biological phenomena at distinct levels. In particular, comparative analyses of whole-genome-sized sequence data reveal that the periodic sequences cause the segmental duplication that is a type of chromosomal structural arrangement [2]. In this study, we analyze the relationships between the large-...
Large copy number variants (CNVs) have been recently found as structural polymorphisms of the human genome of still unknown biological significance. CNVs are significantly enriched in regions with segmental duplications or low-copy repeats (LCRs). Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of contiguous genes at 7q11.23 mediated by nonallel...
We developed several novel tools to genome wide screen for CNVs and SNPs in single cells. When applied to cleavage stage embryos from young fertile couples we discovered, unexpectedly, an extremely high incidence of chromosomal instability, a hallmark of tumorigenesis (Vanneste et al., Nature Medicine, 2009; Vanneste et al., Hum.Reprod., 2011). Not only mosaicisms for whole chromosome aneuploid...
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