De novo rates and selection of large copy number variation Andy Itsara , 1 Hao Wu , 2
نویسندگان
چکیده
De novo rates and selection of large copy number variation Andy Itsara, Hao Wu, Joshua D. Smith, Deborah A. Nickerson, Isabelle Romieu, Stephanie J. London, and Evan E. Eichler Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA; National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, North Carolina 27709, USA; National Institute of Public Health, Cuernavaca, Morelos 62100, Mexico; Howard Hughes Medical Institute, Seattle, Washington 98195, USA
منابع مشابه
De novo rates and selection of schizophrenia-associated copy number variants.
BACKGROUND At least 10 large and rare recurrent DNA copy number variants (CNVs) have been identified as risk factors for schizophrenia and other neurodevelopmental disorders. Because such conditions are associated with reduced fecundity, these pathogenic CNVs should be filtered out from the population by selection and must be replenished by de novo events. METHODS To estimate the mutation rat...
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Copy number variants (CNVs) contribute to human genetic and phenotypic diversity. However, the distribution of larger CNVs in the general population remains largely unexplored. We identify large variants in approximately 2500 individuals by using Illumina SNP data, with an emphasis on "hotspots" prone to recurrent mutations. We find variants larger than 500 kb in 5%-10% of individuals and varia...
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Several studies in the last 5 years have shown that newly arising (de novo) mutations contribute to the genetics of schizophrenia (SZ). This will replenish genetic variants removed by natural selection and could, in part, explain why SZ prevalence has remained stable in the general population despite low fecundity. The strongest evidence to date for the association between SZ and de novo mutati...
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Monozygotic (MZ) twins are genetically identical at conception, making them informative subjects for studies on somatic mutations. Copy number variants (CNVs) are responsible for a substantial part of genetic variation, have relatively high mutation rates, and are likely to be involved in phenotypic variation. We conducted a genome-wide survey for post-twinning de novo CNVs in 1,097 MZ twin pai...
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The copy number variation (CNV) is a type of genetic variation in the genome. It is measured based on signal intensity measures and can be assessed repeatedly to reduce the uncertainty in PCR-based typing. Studies have shown that CNVs may lead to phenotypic variation and modification of disease expression. Various challenges exist, however, in the exploration of CNV-disease association. Here we...
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