Researchers from University of Miami Miller School of Medicine and Roche Applied Science have published a research study.
The study details the 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.
The human exome is comprised of the most functionally relevant one per cent of the human genome, namely all the coding exons, which are the small pieces of DNA that encode for proteins.
From the company's understanding of the genome thus far, a disproportional majority of DNA changes that cause human genetic diseases lay within the exome.
The 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, representing typical conditions for larger human-genetic-disease sample collections.
By combining Nimblegen Sequence Capture Arrays and the Genome Sequencer FLX System from 454 Life Sciences, the study covered up to 98 per cent of the targeted bases and identified up to 14,284 SNPs and small indels per individual exome.
The researchers also developed an advanced genotype calling strategy that is based on empirical data and were able to detect more than 99 per cent of SNPs covered.
