UNIT 7.23 Using XHMM Software to Detect Copy Number Variation in Whole‐Exome Sequencing Data. (24th April 2014)

• Record Type: Journal Article
• Authors: Fromer, Menachem; Purcell, Shaun M.
• Is Part Of: Current protocols in human genetics. Volume 81(2014)
• Page Start: 7.23.1
• Page End: 7.23.21
• Publication Date: 2014-04-24
• Subjects: next‐generation sequencing (NGS) -- copy number variation (CNV) -- principal component analysis (PCA) -- data normalization -- Hidden Markov Model (HMM); Human genetics -- Laboratory manuals; Genetic Techniques; Human genetics; Laboratory manuals; 599.935028
• DOI: 10.1002/0471142905.hg0723s81
• Languages: English
• ISSNs: 1934-8258

Abstract

Abstract: Copy number variation (CNV) has emerged as an important genetic component in human diseases, which are increasingly being studied for large numbers of samples by sequencing the coding regions of the genome, i.e., exome sequencing. Nonetheless, detecting this variation from such targeted sequencing data is a difficult task, involving sorting out signal from noise, for which we have recently developed a set of statistical and computational tools called XHMM. In this unit, we give detailed instructions on how to run XHMM and how to use the resulting CNV calls in biological analyses. Curr. Protoc. Hum. Genet . 81:7.23.1‐7.23.21. © 2014 by John Wiley & Sons, Inc.