First-ever long read datasets added to two Kids First studies

(Press-News.org) This new Kids First data creates a fuller understanding of how genetics contributes to childhood cancers and congenital disorders, opening additional doors for prevention and treatment. 

WHO: The Gabriella Miller Kids First Pediatric Research Program (Kids First), an initiative of the National Institutes of Health (NIH). Kids First data, tools, and resources are available via the Kids First Data Resource Center (DRC).

WHAT: The 2025 releases represent the first batch of long read sequencing data made available through the Kids First research portal. Long read sequencing offers improved genome assembly by sequencing longer or more complex DNA fragments that other technologies cannot 

Each of the long samples on the Kids First Portal is paired with Illumina short read data, facilitating combined analysis for all types of variant discovery. New publicly available data are available in the following studies:

CHILDHOOD CANCERS

Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors
dbGaP Study Accession: phs001987.v3.p1

Principal Investigator: Nara Sobreira, MD, PhD. Johns Hopkins University, Baltimore, MD, USA.

Enchondromas are benign, intramedullary cartilaginous bone tumors that can turn into malignant tumors called chondrosarcomas. Diseases such as metachondromatosis (MC), Ollier disease (OD), and Maffucci syndrome (MS) can arise when multiple enchondromas are present. These conditions can ultimately lead to severe limb deformities during early childhood, and there is up to 30% risk of chondrosarcoma for OD and MS. The molecular basis of OD and MS is not completely understood, and there is currently no effective drug therapy for these disorders. This is the first data release to include long-read sequencing data: 24 new PacBio long-read files and 3 new participants.

CONGENITAL DISORDERS

Gabriella Miller Kids First Pediatric Research Program in Bladder Exstrophy, Epispadias, Complex (BEEC)
dbGaP Study Accession: phs002173.v2.p2

Principal Investigator: Angie Jelin, MD. Johns Hopkins University, Baltimore, MD, USA.

Patients with Bladder Exstrophy Epispadias Complex (BEEC) suffer substantial morbidity and mortality due to genito-urinary dysfunction. Elucidating the underlying genetic component is critical to gaining a better understanding of the developmental signaling pathways and is likely the first step to developing targeted therapy. The latest version of this study now includes long-read data: 72 new ONT long-read files and 9 new participants.

WHEN: New long read data is immediately available for both studies.

WHERE: The Kids First Data Resource Center (Kids First DRC) contains a quality collection of more than 1 million data records, including this newly released data. Use the links embedded in the description titles for detailed information about the studies listed above. 

WHY: The Kids First DRC Portal offers a centralized repository of harmonized genomic sequencing data from children with pediatric cancer and congenital disorders. This data is freely accessible to scientists and researchers worldwide. By connecting researchers to this resource, Kids First DRC aims to accelerate the development of new treatments that are difficult to achieve through isolated research efforts.

About the Gabriella Miller Kids First Data Resource Center

The Gabriella Miller Kids First Data Resource Center (Kids First DRC) accelerates breakthroughs in childhood cancer and congenital disorder research. Powered by the National Institutes of Health (NIH) supported Gabriella Miller Kids First Pediatric Research Program, it unites quality pediatric genomic and clinical data to drive collective discovery and real-world impact.

To help shape the next decade of pediatric research advancement, visit kidsfirst.org.

Media Contact
Whitney Rife
rifew@chop.edu

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