Plagnol, V and Curtis, J and Epstein, M and Mok, KY and Stebbings, E and Grigoriadou, S and Wood, NW and Hambleton, S and Burns, SO and Thrasher, AJ and Kumararatne, D and Doffinger, R and Nejentsev, S (2012) A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics , 28 (21) 2747 - 2754. 10.1093/bioinformatics/bts526.
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.
|Title:||A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.|
|Open access status:||An open access publication|
|Additional information:||PMCID: PMC3476336|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience|
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Infection and Immunity (Division of)
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Infection and Immunity > ICH - Molecular Immunology Unit
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