USA – Ahead of the 2024 American Society of Human Genetics (ASHG) annual meeting, Illumina has unveiled plans to share exciting updates on its advanced technologies, including whole-genome sequencing, proteomics, and single-cell analysis.
Attendees can look forward to data presentations from key opinion leaders, providing insights into the latest innovations in genetic research.
One of the highlights of Illumina’s presentation will be the update on its constellation mapped read technology, a game-changing advancement in whole-genome sequencing.
Steve Barnard, PhD, Illumina’s Chief Technology Officer, will provide new details on the technology’s capabilities, joined by Niall Lennon, PhD, chair and CSO of Broad Clinical Labs, who will present early data demonstrating its flexibility.
Illumina’s constellation mapped read technology is designed to simplify whole-genome workflows by eliminating traditional library preparation steps.
The technology aims to provide the most comprehensive whole-genome analysis by adding long-range information to the company’s XLEAP-SBS chemistry.
This will allow scientists to resolve complex genetic regions like pseudogenes and generate ultra-long phased data, offering high-resolution views of complex structural variations.
The first product based on this technology is set to enter early access in the first half of 2025.
Advancements in protein quantification with Protein Prep
Illumina will also share significant progress in its proteomics work, particularly with its Protein Prep solution, developed in collaboration with Standard BioTools (formerly SomaLogic).
This solution, which was first announced in 2022, enables sample-to-analysis protein discovery and has the ability to identify and quantify over 6,000 human proteins.
At the ASHG meeting, the company will demonstrate how Protein Prep is compatible with the NovaSeq X and NovaSeq 6000 systems, facilitating multiomics analysis on a single platform.
Dr. Kamel Lahouel, assistant professor at the Translational Genomics Research Institute (TGen), will present a pilot study using Protein Prep to explore circulating protein concentrations as potential biomarkers for cancer detection.
TGen is participating in an early access program for Protein Prep, which is set to launch with 9,000 unique human proteins in early 2025.
Single-cell sequencing
In addition, Illumina will showcase PiPseq V, its single-cell analysis solution from Fluent BioSciences.
This solution allows researchers to explore the complexities of cell biology at a deeper level.
Presenters will share early access data from a large-scale study involving more than a million neuronal single cells, highlighting PiPseq V’s potential to reveal new insights in cellular research.
Illumina will also update attendees on its 25B 100-cycle and 200-cycle kits for the NovaSeq X Series, which are expected to become available by the end of the year.
These kits will enable multiomics applications, allowing researchers to conduct single-cell, proteomics, and other studies at scale.
Additionally, the company will present a series of posters showcasing studies using the new MiSeq i100 Series instruments.
These instruments, launched in October, incorporate Illumina’s XLEAP-SBS chemistry and DRAGEN data analysis capabilities.
They are designed to support a wide range of applications, including pathogen detection, tumor genomic variation analysis, and antimicrobial resistance research.
