NCATS funds 'All of Us Research Program' to evaluate innovative DNA sequencing tools

The All of Us Research Program has selected the HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, to evaluate the use of leading-edge DNA sequencing technologies that could someday improve diagnosis and treatment of many diseases, both common and rare. The National Center for Advancing Translational Sciences (NCATS) is funding the project with $7 million over one year. All of Us and NCATS are parts of the National Institutes of Health.

All of Us will provide one of the world's most robust platforms for precision medicine research, with a broad range of data to drive new discoveries. Through this partnership with NCATS, we'll be able to offer approved researchers an even greater depth of genetic information than originally planned, making the resource even more valuable for them and the diverse communities we seek to help."

Eric Dishman, All of Us director

With this award, HudsonAlpha will use long-read whole genome sequencing technologies to generate genetic data on about 6,000 samples from participants of different backgrounds. Long-read sequencing analyzes DNA in larger segments than standard (short-read) sequencing technologies, exposing genetic variations that may otherwise go undetected. These variations include different types of alterations to the genetic structure, such as duplication, deletion or rearrangement of the building blocks that uniquely make up one's genome and set it apart from others. Everyone has thousands of these genetic variations, most with little known effect. However, researchers are learning more about how some genetic variants underlie certain health conditions or, conversely, increase disease resistance. Understanding the genetic underpinnings of health and disease will help researchers identify more targeted interventions in the future.

This project will allow researchers to better determine the value of long-read sequencing and its strengths and limitations in exploring more elusive parts of the genome. Combined with the 1 million whole genome sequences the program already plans to deliver over the next several years, this additional infusion of genetic information will provide the research community with the largest collection of genomic structural variation data and clinical data ever produced.

"Because long-read sequencing can reveal genetic changes associated with rare diseases, this project is an opportunity to assess and potentially refine the technology for advancing research across the many diseases for which there is no treatment," said Christopher P. Austin, M.D., NCATS director. "This project illustrates the power of data and technology to accelerate the translation of knowledge into improved health."

The HudsonAlpha team, led by Shawn Levy, Ph.D., brings significant experience in large-scale sequencing projects and in genetic studies on inherited disorders as well as complex conditions, including autism, diabetes, cancer, schizophrenia, degenerative neurological disease and amyotrophic lateral sclerosis (ALS).

"We look forward to collaborating with the other All of Us genome centers and the rest of the consortium on this exciting effort," said Dr. Levy. "Contributing long-read sequencing data to reveal additional structural variants will enable the scientific community to study human diversity on a tremendous scale. Appreciating the impacts of all types of genetic variation will further unravel the genetic, environmental and behavioral influences of health."

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