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Research

NIH's All of Us Research Project | KAPA HyperPrep Kit

What is the All of Us Research Project?

The All of Us Research Project is a groundbreaking initiative led by the National Institutes of Health (NIH) in the United States. It aims to gather data from at least one million people living in the U.S. to accelerate research and improve health outcomes for everyone.

One important goal of the study is to sequence the genomes of the participants, in a process known as whole-genome sequencing (WGS). Historically, the majority of genomic data has been collected from only a small subset of groups, especially people of European descent; thus, the development of personalized medicine has largely been driven by data from these groups. Now, in order to help create a more equitable future for precision medicine, the NIH researchers have sequenced the genomes of a much more diverse set of participants, including populations that have often been under-represented in genomics research. 

The most recent sequencing data from the project, published in February of 2024 in Nature, includes a summary of clinical-grade whole-genome data for 245,388 individuals. The data reveal that 77% of these are from groups that are historically under-represented in biomedical research, including 51.1% of non-European ancestry and 46% from racial and ethnic minorities.1

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What did the All of Us study find, and what are the potential benefits and impact?

All of Us identified more than 1 billion genetic variants, including more than 275 million previously unreported variants. More than 3.9 million of these had coding consequences; here, this means that these variants alter the amino acid sequence of the protein encoded by a gene. 

Leveraging linkage between genomic data and the longitudinal electronic health records provided by participants, the researchers identified 3,724 genetic variants associated with 117 diseases and found high replication rates across participants of European ancestry and participants of African ancestry.1 Interestingly, many of other variants are also grouped in certain populations— highlighting the importance of understanding the underlying genetic makeup of diverse populations to ensure the equitable advancement of personalized medicine. In addition, the All of Us dataset is an essential resource for advancing research and innovation on conditions that specifically affect women.

How were the DNA samples sequenced?

The high-quality WGS data presented in this study was generated through the use of Roche's KAPA HyperPrep PCR-Free Kit for next-generation sequencing (NGS).

Briefly put, the process of preparing DNA for sequencing– in this case, on the Illumina NovaSeq 6000 instrument– begins with first fragmenting the DNA into small pieces. This was accomplished using a Covaris sonicator. The DNA fragments were then separated by size, and the appropriately sized fragments were processed for sequencing through a process called “DNA library preparation,” or “NGS library prep;” this adds short DNA sequences (adapters) to the ends of the fragments through a process called ligation. The efficiency of this process is known as library conversion efficiency. The main purposes of these adapters are (1) to make the DNA ready for the sequencing instrument, and (2) to enable sorting of the data once sequencing is complete, so that the correct data is associated with the correct participant.

When it comes to library preparation, not all library preparation kits perform the same on several critical measures of success–both before or after sequencing.
The KAPA HyperPrep Kit yielded the performance the NIH needed for this project at all steps,  including conversion efficiency, library yield, low bias, uniform genomic coverage, and low dropouts (regions lacking coverage). 

Learn more about the DNA library prep kit of choice by the "All of Us Project" for mechanically fragmented DNA; KAPA HyperPrep Kits

1The All of Us Research Program Genomics Investigators. Genomic data in the All of Us Research Program. Nature 627, 340–346 (2024). https://doi.org/10.1038/s41586-023-06957-x

KAPA products are For Research Use Only. Not for use in diagnostic procedures.