# Genome Sequencing in support of the Gabriella Miller Kids First Pediatric Research Program

> **NIH NIH U24** · BROAD INSTITUTE, INC. · 2020 · $7,333,873

## 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 three 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 25,000 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 introduce new 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 in clinical genom...

## Key facts

- **NIH application ID:** 10017287
- **Project number:** 5U24HD090743-05
- **Recipient organization:** BROAD INSTITUTE, INC.
- **Principal Investigator:** Stacey Gabriel
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $7,333,873
- **Award type:** 5
- **Project period:** 2016-09-23 → 2022-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10017287

## Citation

> US National Institutes of Health, RePORTER application 10017287, Genome Sequencing in support of the Gabriella Miller Kids First Pediatric Research Program (5U24HD090743-05). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10017287. Licensed CC0.

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