The researchers are studying reduced heterozygosity exhibited by residents of one Dutch village compared to the general population, and any relationship this has with risk factors for type-2 diabetes or cardiovascular disease. In this portion of the project, exomes from 1,500 samples will be sequenced.
“The genetically isolated population of the study is ideal for the discovery of new genetic variants related to complex disorders,” said Wilfred van IJcken, head of the genomics core facility at Erasmus Medical Center. “We are halfway through this sequencing project and are very pleased with the results so far.
The newly designed v4 exome-capture platform needs only 4 Gbp, which is financially attractive because more exomes can be analyzed. Furthermore, we have been pleasantly surprised by the quality of the data.”
“We are excited by the potential implementation of exome sequencing for clinical diagnostics as well,” van IJcken added. “We hope that this approach will be one of the favorites to succeed.”
“As interest continues to grow in exome sequencing,” said Robert Schueren, Agilent vice president and general manager, Genomics, “we’ve put a lot of effort into providing a complete, streamlined exome target-enrichment workflow from sample prep to sequencing.”
SureSelect XT includes SureSelect biotinylated RNA library “baits,” hybridization buffers, and optimized gDNA prep and library prep kits.
The investigators have produced 50 exomes per week during each of three consecutive months, including analysis. The workflow uses the Agilent Bravo liquid-handling platform to automate DNA library prep and in-solution enrichment.
The SureSelect portfolio provides a complete and customizable target-enrichment platform. Since it was introduced in 2009, SureSelect has been instrumental in more than 230 published studies covering research into a wide range of heritable disorders and complex diseases. There are now more than 23 products in the SureSelect portfolio, including a full range of catalog and custom products. The Agilent Bravo automated liquid-handling platform is the fastest and most versatile small footprint liquid-handling system available.