De novo rates and selection of large copy number variation
نویسندگان
چکیده
منابع مشابه
De novo rates and selection of large copy number variation Andy Itsara , 1 Hao Wu , 2
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 Hum...
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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...
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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 changes, the gains and losses of chromosome segments, are a common type of genetic variation among healthy individuals as well as an important feature in tumor genomes. Microarray technology enables us to simultaneously measure, with moderate accuracy, copy number variation at more than a million chromosome locations and for hundreds of subjects. This leads to massive data sets and ...
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To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied genomic copy-number variation in a large cohort of families with a single affected child and at least one unaffected sibling. We confirm a major contribution from de novo deletions and duplications but also find evidence of a role for inherited "ultrarare" duplications. Our results show that, relative to ...
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ژورنال
عنوان ژورنال: Genome Research
سال: 2010
ISSN: 1088-9051
DOI: 10.1101/gr.107680.110