Researchers from University of Miami Miller School of Medicine and Roche
Applied Science (SIX:RO)(SIX:ROG)(Pink
Sheets:RHHBY) have recently published a research study on human
exome resequencing results from eight individuals that span across three
generations of a family. 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.
“Being able to target the specific
genomic regions of interest for sequencing allows researchers to quickly
and efficiently uncover the genetic mechanism of disease, which could
lead to important insights into personalized medicine.”
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.