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Curr Protoc Hum Genet DOI:10.1002/0471142905.hg0723s81

Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data.

Publication TypeJournal Article
Year of Publication2014
AuthorsFromer, M, Purcell, SM
JournalCurr Protoc Hum Genet
Date Published2014 Apr 24
KeywordsDNA Copy Number Variations, Exome, Software

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.


Alternate JournalCurr Protoc Hum Genet
PubMed ID24763994
PubMed Central IDPMC4065038
Grant ListR01 HG005827 / HG / NHGRI NIH HHS / United States
R01HG005827 / HG / NHGRI NIH HHS / United States