The ISCA consortium is continuing to grow and now includes over 150 clinical laboratories from across the world. Given the rapid increase in utilization of this testing on a routine clinical basis, and the ability to recruit an expanding number of collaborating labs contributing data to a central database, the size of this cohort will continue to rapidly grow, providing a highly cost-effective way to obtain very large CNV datasets. In addition, since this data will be publicly available through two NCBI resources, dbGaP (database of Genotypes and Phenotypes) and dbVar, this resource can be readily accessed by researchers as well as the clinical community. Having large datasets from individuals with abnormal phenotypes will foster more objective formal scientific analyses to predict which CNVs will impact human development. Such efforts will make it possible to develop a whole-genome dosage map in humans to determine which genes and regions are subject to haploinsufficiency or triplosensitivity compared to those that are tolerant of dosage changes.
