A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
University of Cambridge · Great Ormond Street Hospital · +3 more institutions
Abstract
MOTIVATION: Exome sequencing has proven to be an effective tool to discover the genetic basis of Mendelian disorders. It is well established that copy number variants (CNVs) contribute to the etiology of these disorders. However, calling CNVs from exome sequence data is challenging. A typical read depth strategy consists of using another sample (or a combination of samples) as a reference to control for the variability at the capture and sequencing steps. However, technical variability between samples complicates the analysis and can create spurious CNV calls. RESULTS: Here, we introduce ExomeDepth, a new CNV calling algorithm designed to control for this technical variability. ExomeDepth uses a robust model…
Citation impact
- FWCI
- 16.55
- Percentile
- 100%
- References
- 22
Authors
13- VPVincent PlagnolCorresponding
University of Cambridge, Great Ormond Street Hospital, Addenbrooke's Hospital, University College London, Newcastle University
- JCJames Curtis
University of Cambridge, Great Ormond Street Hospital, Addenbrooke's Hospital, University College London, Newcastle University
- MPMichael P. Epstein
University of Cambridge, Great Ormond Street Hospital, Addenbrooke's Hospital, University College London, Newcastle University
- KYKin Y. Mok
University of Cambridge, Great Ormond Street Hospital, Addenbrooke's Hospital, University College London, Newcastle University
- ESEmma Stebbings
University of Cambridge, Great Ormond Street Hospital, Addenbrooke's Hospital, University College London, Newcastle University
Topics & keywords
- Exome sequencing
- Exome
- Copy-number variation
- Computer science
- Spurious relationship
- Computational biology
- Data mining
- Biology