California-based Ultima Genomics emerged from stealth mode on 31st May to announce a new high-throughput, low-cost sequencing platform that it claims delivers the $100 genome. The Bay Area biotech is a surprise player to the race to read DNA quickly, accurately and cheaply.
A $100 genome would represent a significant drop in price, opening new doors for researchers to better understand human health.
Looking into the new technology
The company, backed by $600 million in venture-capital funding, says its sequencing technology scales beyond conventional approaches and includes new advances to flow-cell engineering, sequencing chemistry and machine learning.
A preprint paper (not yet peer-reviewed) says that the technology “combines an open flow cell design on a circular wafer with a large surface area and mostly natural nucleotides that allow optical end-point detection without reversible terminators.”
Accurate sequencing in 20 hours for $100
The platform can produce approximately 10 billion reads per run, with a turnaround time of under 20hrs per run for 300bp reads, with base quality similar to existing platforms (Q30 >85%) at a price of $1/Gb.
The preprint study was published in collaboration with scientists from the Broad Institute of Massachusetts Institute of Technology and Harvard. The authors established the performance of the platform by whole-genome sequencing of Genome-In-A-Bottle reference samples. The platform demonstrated high accuracy for single nucleotide polymorphisms (99.6%) and indels in homopolymers up to length 10 (96.4%) across the vast majority (>98%) of the defined high-confidence regions of these samples.
They demonstrated the scalability of sequencing workflow by sequencing over 200 selected samples from the 1000 Genomes project, achieving high concordance with reference data.
Platform in action
The company intends to present scientific results that show the platform in action at the upcoming Advances in Genome Biology and Technology meeting, which will be held in Florida 6-9th June. These results include:
- A genome-wide PerturbSeq study (available as a preprint) of four million cells, performed at The Whitehead Institute, that shows the use of Ultima’s platform in large-scale single-cell studies.
- A whole-genome methylation landscape of pre-cancerous tissues, generated in collaboration with Stanford University (available as a preprint), that reveals DNA methylation changes that occur during the transformation from healthy colon tissue to malignant colorectal cancer.
Gilad Almogy, Founder and Chief Executive Officer of Ultima Genomics said, “Our architecture is intended for radical scaling, and the $100 genome is merely the first example of what it can deliver. We are committed to continuously drive down the cost of genomic information until it is routinely used in every part of the healthcare system.”
Written by Charlotte Harrison, Science Writer
Image Credit: Canva
