cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

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• 作者：Pubudu Saneth Samarakoon ; Hanne Sørmo Sorte ; Asbjørg Stray-Pedersen…
• 关键词：CNV ; Exome ; Mutation detection
• 刊名：BMC Genomics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：17
• 期：1
• 全文大小：1,092 KB
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• 作者单位：Pubudu Saneth Samarakoon (1)
  Hanne Sørmo Sorte (1)
  Asbjørg Stray-Pedersen (2) (3) (4)
  Olaug Kristin Rødningen (1)
  Torbjørn Rognes (5) (6)
  Robert Lyle (1)
  
  1. Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway
  2. Norwegian National Newborn Screening, Oslo University Hospital, Oslo, Norway
  3. Center for Human Immunobiology/Section of Immunology, Allergy, and Rheumatology, Texas Children’s Hospital, Houston, TX, USA
  4. Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
  5. Department of Informatics, University of Oslo, Oslo, Norway
  6. Department of Microbiology, Oslo University Hospital, Oslo, Norway
  
• 刊物主题：Life Sciences, general; Microarrays; Proteomics; Animal Genetics and Genomics; Microbial Genetics and Genomics; Plant Genetics & Genomics;
• 出版者：BioMed Central
• ISSN：1471-2164

文摘

Background With advances in next generation sequencing technology and analysis methods, single nucleotide variants (SNVs) and indels can be detected with high sensitivity and specificity in exome sequencing data. Recent studies have demonstrated the ability to detect disease-causing copy number variants (CNVs) in exome sequencing data. However, exonic CNV prediction programs have shown high false positive CNV counts, which is the major limiting factor for the applicability of these programs in clinical studies.