10x Genomics, a company focused on improving and broadening the application of genomic information across healthcare and other industries, today announced the publication of a study that was enabled by the company's GemCode™ technology platform, a powerful new approach that allows researchers to discover previously inaccessible genomic information. The research analyzed the biomedical consequences of adult humans with gene knockouts, and the impact of one specific knockout on genetic recombination patterns. The study, titled "Health and Population Effects of Rare Gene Knockouts in Adult Humans with Related Parents," has been published in the Mar. 3 issue of the journal Science.
The GemCode technology platform was used to perform an in-depth analysis of an inactive gene, or 'knockout', in PRDM9, a gene that was thought to be essential to produce functional eggs or sperm. Phased genome sequencing was performed using 10x's Linked-Read approach in samples from a healthy mother with the PRDM9 knockout, her healthy son and controls. Results demonstrated PRDM9 redundancy in humans and suggested, for the first time, that humans do not require the PRDM9 gene. These results were supportive of the researcher's broader conclusion that only a fraction of genes appear to be essential for human life.
"We were delighted to collaborate with 10x Genomics using molecular phasing to find the recombination sites in the person lacking PRDM9," said Richard Durbin, Ph.D., senior group leader at the Wellcome Trust Sanger Institute and co-author of the study. "With the Linked-Read approach through the GemCode technology platform, we were able to precisely identify recombination events in individual subjects and compare these data with known patterns of recombination - all exactly what we wanted from the technology."
The researchers in this study opted to use the GemCode technology because the microfluidics-based, Linked-Read sequencing technology, built on the system's proprietary platform is the only commercially available sequencing technology that can phase and haplotype human genomes using only nanograms of input DNA. This droplet-based system prepares barcoded libraries for short-read sequencing and computationally reconstructs long-range haplotype and structural variant information.
"This publication and its significant applications underscore the importance of phasing genomes and the unique ability of our technology to study biological events that have been difficult or impossible to obtain previously," said Serge Saxonov, Ph.D., chief executive officer and co-founder of 10x Genomics. "Our GemCode technology provides a new paradigm for whole genome analysis and has the ability to unlock valuable insights into human health."