Fast detection of de novo copy number variants from SNP arrays for case-parent trios

In studies of case-parent trios, we define copy number variants (CNVs) in the offspring that differs from the parental copy numbers as de novo and of interest for their potential functional role in disease. Among the leading array-based methods for discovery of de novo CNVs in case-parent trios is the joint hidden Markov model (HMM) implemented in the PennCNV software.