We recently published a paper 'Outlier-Based Identification of Copy Number Variations Using Targeted Resequencing in a Small Cohort of Patients with Tetralogy of Fallot'. I think it will be interesting for someone working on copy number variations. Advantages- 1. Calling CNVs from small cohort. 2. Does not require control samples.
I would like to thank Biostar members for useful discussions.
Thanks and best wishes, Vikas