At the recent 2016 American Society of Human Genetics (ASHG) Annual Meeting in Vancouver, iGenomX presented the first results of their long single-molecule assembly (SMA) technology. When combined with the RainDance picoliter droplet technology and Illumina’s next-generation sequencing (NGS) systems, the iGenomX sequencer-ready library construction technique produces uniform coverage of long DNA molecules of any obtainable length. Data will be presented publicly for the first time on Friday, October 21 at 1:00 p.m. PST during the RainDance Technologies Exhibitor Education Event at the ASHG Meeting.
“Short-read sequencing is unable to resolve long repetitive genomic elements and complex structural variation in the human genome,” said Keith Brown, chief executive officer and co-founder of iGenomX. “The iGenomX technology enables long molecule assembles from short-read sequencing with a mean length of 80 kb. This opens up the possibility for novel analysis of human genomes in the context of our 46 individual chromosomes including phase, large structural variation and the potential for de novo human genome assembly.”
Beta results demonstrate uniform coverage of the genome and individually sequenced long molecules. The mean and median coverage are equivalent and the standard deviation is less than half the mean. When compared against the National Standards and Technology (NIST) Genome in a Bottle (GIAB) NA12878 DNA sequence, single nucleotide variant (SNV) sensitivity is greater than 99 percent and SNV specificity is greater than 99.99 percent. The assembly of long molecules results in a genome wide N50 haplotype block length longer than 10 Mbp with more than 99 percent of variants phased.
“Raw sequence data from the iGenomX technology is high quality,” said Nils Homer, Ph.D., lead bioinformatics scientist at iGenomX and founding partner of Fulcrum Genomics. “The uniform coverage of individual molecules produced by the iGenomX technology allows for the use of existing industry standard analysis tools. By avoiding the black box processing of data and allowing for open access, the research community can expand the potential applications of the technology.”
The iGenomX single-molecule assembly technology is a proprietary three-step workflow optimized for low-sample input. With one hour of hands on time, sequencer-ready libraries are created without fragmentation, end repair or ligation. The technology can be fully automated to allow for a throughput of 384 samples per week with one full-time technician.
“The workflow is simple, fast and easily automatable,” said Kirk Malloy, Ph.D., an independent corporate director for iGenomX. “Most impressive is the versatility of this technology. It can be applied to targeted sequencing, strand-specific RNA sequencing, Methyl-Seq and single-cell sequencing. It also has the potential to provide de novo assembly of complete human genomes from short-read sequence data.”
Source – BusinessWire