Open AccessUsing XHMM Software to Detect Copy Number Variation in Whole‐Exome Sequencing Data
Author(s) -
Fromer Menachem,
Purcell Shaun M.
Publication year - 2014
Publication title -
current protocols in human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.282
H-Index - 30
eISSN - 1934-8258
pISSN - 1934-8266
DOI - 10.1002/0471142905.hg0723s81
Subject(s) - copy number variation , exome sequencing , computational biology , exome , software , computer science , biology , genetics , mutation , genome , gene , programming language
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.