Just published: Long-Read Sequencing Unlocks The Final Gaps In The Human Genome

Nearly 20 years after the Human Genome Project sequenced 92% of the human genome, scientists just published the first truly complete genome. The effort involved an unprecedented, grassroots collaboration of scientists around the world who applied novel long-read sequencing technologies to sort through massive, previously unmapped strands of DNA located primarily in the dense centers of human chromosomes.

The speed, accuracy, and increasing affordability of next-generation sequencing (NGS) has helped catapult precision medicine to the next level. To-date, oncology applications are the most advanced and widely used. Genomic data, combined with clinical information guide clinical-decision making to improve disease outcome via patient-matched treatment. Such advanced treatment strategies are gaining more and more traction within the clinic.

On the sequencing technology side, we see a lot of movement with new companies developing new sequencing capabilities and instruments: Bionano Genomics (Optical Genome Mapping system), Element Biosciences (announcing the AVITI system in March 2022), Nabsys, and Singular Genomics (the new G4 system was announced at the end of 2021). On the other hand, long-read sequencing evolved over the last couple of years and reached a level of accuracy and yield that allowed it to pave the way toward applications in the context of population-scale sequencing projects. Significant players include Pacific Biosciences and Oxford Nanopore, the technology of which was recently used to sequence long reads of over 100 cancer tumors from the 100,000 Genomics England Project.

In parallel, the advancements of various technologies, such as cloud-based computing, artificial intelligence, or imaging analysis have enabled NGS to increase the repertoire of genetic applications, be it for SARS-CoV-2 surveillance, single-cell genomics, spatial transcriptomics, metagenomics for infectious disease testing, or the study of the microbiome. While some of these activities are still at the research stage, others are already moving toward the clinic.

These exciting developments are the focus of a full-day track at PMWC 2022 Silicon Valley, June 28-30, in the Emerging Technologies and Disease Applications Track. Key players are contributing to the program representing the various technological advancements and applications:
• Long-Read Sequencing Technologies with Stephen Turner (Pacific Biosciences)
• Single-cell Genomics with Michael Schnall-Leving (10x Genomics)
• Spatial Transcriptomics with Jason Gammack (Resolve Biosciences)
• Metagenomics for Pathogen Identification + AI with Charles Chiu (UCSF), Sivan Bercovici (Karius), Philip Stevens (Noscendo GmbH), and Todd Dickinson (Arc Bio)
• 4th Generation Sequencing Technologies & Genome Mapping Systems – chaired by Barrett Bready (Nabsys) with Alka Chaubery (Bionano Genomics), and Eli Glezer (Singular Genomics)
• ML/AI for Diagnosis & Prognosis with Amrie Grammer (AMPEL BioSolutions)
• Disease Applications Specific sessions include:
o Leveraging Immune System Diagnostics to Improve Disease Outcomes – chaired by Kathy Kamath (Serimmune Inc.) with Millennia Lytle (Mymee Inc.) and Noah Nasser (Serimmune Inc.)
o Evolving Alzheimer’s Disease Therapeutics with Neuro Diagnostic Therapies – a panel chaired by Keving Hrusovsky (Quanterix), Charlotte Teunissen (Amsterdam UMC), Henrik Zetterberg (U. of Gothenburg), and Nicholas Ashton (U. of Gothenburg)
• A series of Company Showcases of exciting, new and established companies in the field, including (Michael Cardone), Fluent BioSciences (Robert Meltzer), Akoya Biosciences (Brian McKelligan), and Olink (Cindy Lawley)
Last but not least, we will also cover recent Advances in Proteomics, as a complementing technology to watch with the following representatives and presenters:
• Nigel Beard (Encodia)
• Roy Smythe (SomaLogic) and Matthias Kleinz (U. of Pittsburgh Medical Ctr.) both contributing to the session Advances in Proteomics – Stratifying Cardiovascular Risk to Decrease Cost of Care
• Asim Siddiqui (Seer)

Don’t miss out, join to hear and learn from the experts in their respective fields at PMWC 2022 Silicon Valley, in the Santa Clara Convention Center, June 28-30.

Kindly review the PMWC 400-Speaker Program and Register Today!

Sincerely,

Tal Behar
Co-founder & President, PMWC
Precision Medicine World Conference – June 28-30, 2022 Silicon Valley