The Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC) has standardised its target enrichment human disease research studies on Roche Nimblegen technology.
The Baylor HGSC will sequence more than 5,000 exomes using Roche Nimblegen's Sequence Capture Exome in the next two years to identify genetic variants underlying multiple human diseases and will employ Nimblegen Seqcap EZ Exome and customised Nimblegen exome designs as the exome capture technology of choice.
More than 15 different diseases will be investigated by the centre, including brain, liver, pancreatic, colon, ovarian and bladder cancers, heart disease, diabetes, autism and other inherited diseases with the goal of better understanding causative mutations and their impact on these diseases.
These studies are supported by multiple funds from the National Institutes of Health (NIH) and other research consortia.
Through collaboration with Roche Nimblegen, the BCM-HGSC has established and optimised its pipeline for high-throughput exome capture and sequencing with multiple next-generation sequencing platforms.
The Baylor centre has already captured and sequenced more than 2,000 samples, with roughly 1,000 of these using exome sequencing.
As the majority of known disease-causing mutations occur in the coding regions of the human genome (the exome), sequencing the exome allows researchers to focus on this important one per cent of the genome and to efficiently identify many of the genetic variants that are important for genetic diseases.
The cost savings gained by exome sequencing in comparison with whole-genome sequencing allows researchers to investigate more biological samples and to do so more rapidly.
It is also important for cancer studies, as the heterogeneous tumour tissues often require very deep sequencing, which is made economically possible by targeted enrichment.
Based on the Nimblegen Sequence Capture 2.1M exome arrays, which have enabled researchers worldwide to sequence thousands of exomes since late 2008, Roche Nimblegen launched Seqcap EZ Exome technology at the end of 2009.
This new technology employs an in-solution method that simplifies the workflow, provides high-quality targeted capture/enrichment and is scalable to facilitate research studies of any size.
In a recent study published in 'Genome Biology', scientists from the HGSC at Baylor and at Roche Nimblegen used Seqcap EZ Exome to demonstrate that as little as 3Gb of raw sequence data is needed to discover more than 95 per cent of expected heterozygous single base variants.
In the study, Seqcap EZ Exome technology was coupled with multiple high-throughput sequencing platforms for the efficient resequencing of protein-coding regions within the human genome.
