Exome Sequencing of a Three Generation Family Utilizing NimbleGen Systems, Inc.'s Sequence Capture and 454 Life Sciences's Sequencing Systems
1/28/2010 9:07:16 AM
MADISON, Wis. & PENZBERG, Germany--(BUSINESS WIRE)--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.