Canvas SPW: calling de novo copy number variants in pedigrees
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چکیده
منابع مشابه
Canvas 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 کاملApplication note Canvas 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...
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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: versatile and scalable detection of copy number variants
MOTIVATION Versatile and efficient variant calling tools are needed to analyze large scale sequencing datasets. In particular, identification of copy number changes remains a challenging task due to their complexity, susceptibility to sequencing biases, variation in coverage data and dependence on genome-wide sample properties, such as tumor polyploidy or polyclonality in cancer samples. RESU...
متن کاملRare De Novo Copy Number Variants in Patients with Congenital Pulmonary Atresia
BACKGROUND Ongoing studies using genomic microarrays and next-generation sequencing have demonstrated that the genetic contributions to cardiovascular diseases have been significantly ignored in the past. The aim of this study was to identify rare copy number variants in individuals with congenital pulmonary atresia (PA). METHODS AND RESULTS Based on the hypothesis that rare structural varian...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2017
ISSN: 1367-4803,1460-2059
DOI: 10.1093/bioinformatics/btx618