The findings of this study showcased the value of targeted enrichment for family-based studies which allows researchers to quickly identify potential disease-causing genetic variants and will provide the data and information for further research to better understand disease and the impact across generations of a family. This research represents a “real-world” case in human genetics and provides strong evidence that targeted sequencing of the exome is a revolutionary technology to efficiently identify potential disease-causing genes.
The human exome is comprised of the most functionally relevant 1% of the human genome, namely all the coding exons, which are the small pieces of DNA that encode for proteins. From our understanding of the genome thus far, a disproportional majority of DNA changes that cause human genetic diseases lay within the exome. Therefore exome sequencing is an extremely important method to study human genetic diseases.
Compared with other recent publications on exome sequencing, what is unique about the new study is that the eight individuals were selected from three generations of the same family. This lineage-based approach allowed for additional information, confirmation, and discovery that will facilitate genetic discoveries in this and future studies. In addition, the DNA research samples were extracted from blood and have been stored for 13 years, thus representing typical conditions for larger human genetic disease sample collections.