# Characterizing pediatric genomes through an optimized sequencing approach

> **NIH NIH U24** · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · 2020 · $829,064

## Abstract

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PROJECT SUMMARY/ABSTRACT
Expanding our understanding of the genetic contributions and etiologies of birth defects and childhood cancer
will have a significant and direct impact on those affected by those conditions and contribute significantly to
research in related adult conditions. This proposal continues the HudsonAlpha-St. Jude Genome Sequencing
Center (HASJ-GSC) and expands its capabilities. The HASJ-GSC will provide an efficient and experienced
genomics resource to generate and analyze high-quality sequence and variant data from the largest number of
pediatric cancer and birth defect cohorts possible using the funds available over a three-year period. The
innovation, capabilities, and experience of the HASJ-GSC will 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. A robust cost reduction plan allows for an increase in the number of cases
that can be sequenced and analyzed per dollar per year. The HASJ-GSC will generate exceptional quality
whole-genome sequence and variant data for all samples and for the pediatric cancer samples, RNASeq and
whole-exome data. The combined genome, exome and RNASeq will provide as much resolution as possible to
understand the genetic and functional genomic changes observed in pediatric cancer. The HASJ-GSC will also
provide support for a comprehensive collection of additional methodologies such as long read, lined-long read
and RNAseq. These will expand the resolution and type of investigation that can be supported for X01
investigators. The HASJ-GSC will also provide a reliable and efficient data storage and data access capability
that provides fast, reliable and efficient data access, sharing and reporting for the X01 projects and samples.
Finally, the HASJ-GSC will support efficient submission of sequence and variant data to the Gabriella Miller
Kids First Data Resource Center and help facilitate submission to the appropriate public databases.
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## Key facts

- **NIH application ID:** 10017693
- **Project number:** 5U24HD090744-05
- **Recipient organization:** HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY
- **Principal Investigator:** Shawn Edward Levy
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $829,064
- **Award type:** 5
- **Project period:** 2016-09-23 → 2022-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10017693

## Citation

> US National Institutes of Health, RePORTER application 10017693, Characterizing pediatric genomes through an optimized sequencing approach (5U24HD090744-05). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10017693. Licensed CC0.

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