Rubicon Genomics, Inc. has launched PicoPLEX DNA-seq Kits for use with Illumina next-generation sequencing (NGS) platforms.
PicoPLEX DNA-seq employs the same technology currently used by IVF clinics to detect chromosomal aneuploidies, copy number variations and single-gene disorders in reproductive cells.
It is also used for the genetic characterisation of other single-cell samples such as circulating tumor cells.
The three-step process is performed in a single tube or well in less than three hours, thereby reducing error and contamination, speeding time to results and reducing costs.
Chief executive officer of Rubicon Genomics James Koziarz said: “PicoPLEX DNA-seq emphasises our commitment to increasing the robustness and reproducibility of DNA analyses while also delivering greater speed, efficiency and cost savings.
“This launch represents another milestone in our ongoing strategy to make Rubicon Genomics’ proprietary library preparation technology available to users of all sequencing platforms.”
PicoPLEX DNA-seq Kits amplify DNA to yield a highly reproducible NGS-ready library from a single cell with input concentrations of six picograms or less.
Dr. Brian Mariani, chief scientist and scientific director of the Genetics and IVF Institute, helped test the PicoPLEX DNA-seq Kits.
He added: “Remarkably, the sequencing data from the PicoPLEX DNA-seq libraries of embryo DNA clearly identified a male balanced translocation that had not been detected by previous microarray and FISH analyses. This is a significant example of how PicoPLEX sequencing data can expose important structural rearrangements missed by other approaches.”
At the 15th Annual Advances in Genome Biology and Technology (AGBT) meeting, Rubicon’s Dr. John Langmore will discuss “Pre-implantation genetic screening and diagnostics (PGS/PGD) at low NGS coverage for aneuploidy, CNV, and single-gene disorder detection for in vitro fertilization.”
AGBT 2014 will be held on Marco Island, Florida, February 12-15, 2014. For more information, visit www.agbt.org/about.html.