We have selected individuals with high quality whole exome data available from the cohort following stringent quality control measures and Principal Component Analysis (PCA) to develop a copy number variant database.
Thus far in our cohort of over 2000 probands we have identified a mean of 87.5 CNVs per sample and built a database in excess of 200,000 CNVs.
The results have been summarised in a user-friendly web CNV browser using R/Shiny that displays:
Copy Number Variants identified in the cohort
Variant filters: reads ratio, Bayes Factor, CNV frequency data, OMIM gene-phenotype associations and ROH data.
Downloadable excel-compatible spreadsheets containing the full dataset or subsets (e.g. filtered by project ID or Principal Investigator).
Autogenerated sample-specific Circos plots showing deletions and duplications in the genome, annotated with disrupted genes and known gene-phenotype associations.
CNV Browser (the current version was developed with the help of Luke Peacock).