Eurofins MWG Operon, an expert in next generation sequencing (NGS) and Certified Service Provider for Roche NimbleGen sequence capture, together with Genomatix Software GmbH, a leading company in complex analysis and interpretation of such NGS data, announce that they have developed a complete human exome array, based on Roche NimbleGen sequence capture technology.
"We are pleased to offer this comprehensive service for human exome capture, targeted re-sequencing and data interpretation. The development of the new exome array was necessary, as currently available versions of human whole-exome capture products do not include or do not efficiently capture many medically relevant genes, so that researchers might miss important information." says Bruno Poddevin, Eurofins Senior Vice President, Genomic Services.
Klaus May, Chief Business Officer of Genomatix, says: "Based on the latest human reference genome sequence hg19/NCBI37/GRCh37 and our proprietary ElDorado extended genome annotation 02-2010 we developed a human exome with 282,363 target regions, representing 240,402 exonic regions. We included splice sites and added 83,246 proximal promoter regions plus 678 microRNAs in order to allow the researcher to obtain the most comprehensive picture that exon capturing technology allows today. The combined expertise of Eurofins and Genomatix enables us to offer the most advanced whole exome analysis service available to date."
A very recent comparison study by Kevin Jacobs, Director of Scientific Operations of Bioinformatics at the National Cancer Institute, presented at the June "Beyond Sequencing Conference" in San Francisco, showed that between 17 percent and 23 percent of human coding sequences are not targeted by current exome capturing systems, missing out several medically important genes.
The new proprietary exome is filling that gap. It is contained on two 2.1M NimbleGen arrays and is usually sequenced with two channels of a GA IIx run with 108bp chemistry.