# GMKF competing renewal

> **NIH NIH U24** · BROAD INSTITUTE, INC. · 2024 · $6,025,145

## Abstract

ABSTRACT
 We propose to continue to provide data generation and processing activities that will enrich a
genomic data resource to propel pediatric disease research. Key elements to a successful program will
be the provision of high quality genome sequence data on well-phenotyped patients and their families;
the collection and accessibility of data to the research community in an intuitive manner; and the
integration of genetic data with phenotypic information in the context of this program and comparison to
other large data resources. The ultimate goal is to assemble a complete catalogue of genes that
underlie structural birth defects and pediatric cancer and to enable the use of this information to better
understand disease mechanism, diagnostic opportunities and therapeutic direction.
 We propose to continue as a Kids First Sequencing Center at the Broad Institute as we have done
for the past six years for the program and as we have also done in support of other large flagship NIH
genome projects. Our center brings the domain expertise is high throughput data generation, processing
and analysis, and disease gene discovery required to meet the objectives of the Kids First Program.
 We will apply deep, high-quality whole genome sequencing data on selected samples. We will be
flexible to work closely and accommodate the needs and interests of selected X01 Investigators. Over
the next three-year period we can provide for as many as 23,000 samples pushing the boundary on new
data types and lower cost. We are flexible to a mix of cohort types, whether they are trio based (for
structural birth defects) or quads (in cancer studies). We will work with X01 Investigators to generate
complementary data types such as RNASeq or Long Read Sequencing when appropriate. We will
participate in the evaluation of these data types and their overall impact on discovery and scientific output
of the program.
 A key feature of our center is our implementation of a robust analytical framework for variant
assessment and disease gene discovery, which builds on Broad investigators’ world-leading roles in
statistical genetics, functional annotation, and clinical variant interpretation as well as access to exome
and genome data from hundreds of thousands of samples sequenced at Broad. This has enabled us to
build a systematic pipeline for gene discovery that will be made freely available to the Kids First program.
With data produced and processed in a consistent way, we can offer seamless integration of Kids First
data into our analytic framework. For many of the diseases targeted by pediatric research community,
confident discovery of causal genes will require aggregation of cases across centers around the world.
We will partner with the Kids First Data Resource Center in a variety of ways to ensure that the program
is well-aligned with other large-scale resource generation projects. With this, we hope to support Kids
First as a whole and establish standards for data sharing...

## Key facts

- **NIH application ID:** 10918165
- **Project number:** 5U24HD090743-09
- **Recipient organization:** BROAD INSTITUTE, INC.
- **Principal Investigator:** Stacey Gabriel
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $6,025,145
- **Award type:** 5
- **Project period:** 2016-09-23 → 2026-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10918165

## Citation

> US National Institutes of Health, RePORTER application 10918165, GMKF competing renewal (5U24HD090743-09). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10918165. Licensed CC0.

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