منابع مشابه
Strong Association of De Novo Copy
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متن کاملHydroxyurea induces de novo copy number variants in human cells.
Copy number variants (CNVs) are widely distributed throughout the human genome, where they contribute to genetic variation and phenotypic diversity. Spontaneous CNVs are also a major cause of genetic and developmental disorders and arise frequently in cancer cells. As with all mutation classes, genetic and environmental factors almost certainly increase the risk for new and deleterious CNVs. Ho...
متن کاملCanvas SPW: calling de novo copy number variants in pedigrees
Motivation Whole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. However, joint variant calling in pedigrees is hampered by the complexity of consensus breakpoint alignment across samples within an arbitrary pedigree structure. Results We have dev...
متن کاملDe novo detection of copy number variation by co-assembly
MOTIVATION Comparing genomes of individual organisms using next-generation sequencing data is, until now, mostly performed using a reference genome. This is challenging when the reference is distant and introduces bias towards the exact sequence present in the reference. Recent improvements in both sequencing read length and efficiency of assembly algorithms have brought direct comparison of in...
متن کاملStrong association of de novo copy number mutations with autism.
We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics...
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ژورنال
عنوان ژورنال: AGORA Magazine
سال: 2012
ISSN: 1380-6319
DOI: 10.21825/agora.v28i4.2408