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An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to
Lachlan J M Coin1, Dandan Cao, Jingjing Ren
1BGI-Shenzhen, Shenzhen, 518083, China. Lachlan.J.M.Coin@genomics.org.cn
Motivation:
Despite the prevalence of copy number variation (CNV) in the human genome, only a handful of confirmed associations have been reported between common CNVs and complex disease. This may be partially attributed to the difficulty in accurately genotyping CNVs in large cohorts using array-based technologies. Exome sequencing is now widely being applied to case-control cohorts and presents an exciting opportunity to look for common CNVs associated with disease.
Results:
We developed ExoCNVTest: an exome sequencing analysis pipeline to identify disease-associated CNVs and to generate absolute copy number genotypes at putatively associated loci. Our method re-discovered the LCE3B_LCE3C CNV association with psoriasis (P-value = 5 × 10e-6) while controlling inflation of test statistics (λ < 1). ExoCNVTest-derived absolute CNV genotypes were 97.4% concordant with PCR-derived genotypes at this locus.
Availability And Implementation:
ExoCNVTest has been implemented in Java and R and is freely available from www1.imperial.ac.uk/medicine/people/l.coin/.
Contact:
wangj@genomics.org.cn or Lachlan.J.M.Coin@genomics.org.cn.