# Characterizing pediatric genomes through an optimized sequencing approach

> **NIH NIH U24** · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · 2022 · $3,384,086

## Abstract

Project Summary/Abstract
Expanding our understanding of the genetic contributions and etiologies of congenital disabilities and childhood
cancer impacts those affected directly and contributes significantly to related research in adult conditions. This
proposal builds on the established HudsonAlpha-St. Jude Genome Sequencing Center (HASJ-GSC) and
expands its capabilities to interrogate and integrate data produced by an efficient and experienced genomics
resource. The program aims to generate and analyze high-quality sequence and variant data from the most
pediatric cancer and congenital disability cohorts possible with available funds over three years. We present
here the innovation, capabilities, and experience of the HASJ-GSC to produce data for the Gabriella Miller Kids
First Research Program that will be accessible and available to the research community and leveraged to its
maximal impact for years to come. We also present a technology expansion and cost reduction plan that
increases the number of cases sequenced and analyzed each year. The HASJ-GSC will generate exceptional
quality whole-genome sequence and variant data for all samples. The pediatric cancer samples will also be
analyzed with RNASeq and whole-exome sequencing. The combined genome, exome, and RNASeq will provide
as much resolution as possible toward understanding the genetic and functional genomic changes observed in
pediatric cancer. The HASJ-GSC will also support a comprehensive collection of additional methodologies such
as long-read DNA and RNA sequencing, functional genomic analyses, and advanced data analysis. These
technologies will expand the resolution and types of investigations provided to X01 investigators. The HASJ-
GSC will also provide data storage with fast, reliable, and efficient data access, sharing, and reporting for the
X01 project researchers. Finally, the HASJ-GSC will support efficient sequence and variant data submission to
the Gabriella Miller Kids First Data Resource Center and facilitate submission to the appropriate public
databases.

## Key facts

- **NIH application ID:** 10517119
- **Project number:** 2U24HD090744-07
- **Recipient organization:** HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY
- **Principal Investigator:** Jane Grimwood
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $3,384,086
- **Award type:** 2
- **Project period:** 2016-09-23 → 2025-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10517119

## Citation

> US National Institutes of Health, RePORTER application 10517119, Characterizing pediatric genomes through an optimized sequencing approach (2U24HD090744-07). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10517119. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*