# WashU-VAI Somatic Mosaicism across Human Tissues (SMaHT) Program Genome Characterization Center

> **NIH NIH UM1** · WASHINGTON UNIVERSITY · 2024 · $2,750,000

## Abstract

PROJECT SUMMARY
 The Somatic Mosaicism across Human Tissues (SMaHT) Network aims to propel discovery of new
biological processes in human health and disease that are mediated by genomic variation in somatic tissues.
We propose to establish the WashU-VAI Somatic Mosaicism across Human Tissues (SMaHT) Program Genome
Characterization Center (SMaHT-GCC). A fundamental goal of our proposed GCC is to generate high throughput,
high quality, and high consistency genomic DNA and RNA sequencing data, ands to construct a comprehensive
catalogue of the human somatic variation together with other members of the Network. First, we will establish
and manage a collaborative, efficient, transparent, and flexible GCC as an integral component of the SMaHT
Network. We will leverage our experience in participating and leading many past and current genomics consortia
to design and implement our GCC. The GCC will manage center administration, maintain high quality,
sustainable, and on-time data production, develop and implement data management plans, conduct data quality
assurance and integrative data analysis, and fully engage with the entire SMaHT Network. Second, we will
generate high quality, high throughput, comprehensive and sustainable genomics datasets for the
characterization of human somatic mosaicism, using state-of-the-art technologies. We capitalize on our past
experience in generating high quality sequencing-based genomic resources, to design and implement our data
production plan. We recommend a collection of human tissue types, and will implement four core genomics
assays to profile sample received from SMaHT Tissue Procurement Center. We aim to deliver high throughput,
high quality, and high consistency genomic DNA and RNA sequencing data to the SMaHT Data Analysis Center.
Third, we will develop and maintain a modern, efficient, scalable, and interactive data management and
processing system that seamlessly interfaces with the SMaHT Data Analysis Center. We will leverage our
experience in scientific computing, information technology system, large genomic data management and
integration, and community engagement to design and implement our data management plan. We will build a
streamlined, efficient data infrastructure to manage GCC data and collaborate with SMaHT DAC. Fourth, we will
develop and implement data analysis and visualization solutions for the SMaHT-GCC data. We will leverage our
extensive experience in genomic data analysis and integration, bioinformatics tool development as well as data
visualization in the implementation of our data analysis and visualization plan. We will also bring in unique
expertise in analyzing transposable elements and epigenomics data. We will contribute to the Network-wide data
analysis, and facilitate the characterization of a full spectrum of the human somatic mosaicism.

## Key facts

- **NIH application ID:** 10833194
- **Project number:** 5UM1DA058219-02
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Robert Scott Fulton
- **Activity code:** UM1 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $2,750,000
- **Award type:** 5
- **Project period:** 2023-05-01 → 2028-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10833194

## Citation

> US National Institutes of Health, RePORTER application 10833194, WashU-VAI Somatic Mosaicism across Human Tissues (SMaHT) Program Genome Characterization Center (5UM1DA058219-02). Retrieved via AI Analytics 2026-05-28 from https://api.ai-analytics.org/grant/nih/10833194. Licensed CC0.

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