UM1DA058219

WashU-VAI Somatic Mosaicism Across Human Tissues (SMAHT) Program Genome Characterization Center - Project Summary

The Somatic Mosaicism Across Human Tissues (SMAHT) network aims to propel the 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, and to construct a comprehensive catalogue of 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 samples received from the 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 systems, 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 human somatic mosaicism.

Washington University

NOT APPLICABLE

93.310 - Trans-NIH Research Support

National Institute on Drug Abuse (NIDA) [HHS - NIH]

National Institute of Allergy and Infectious Diseases (NIAID) [HHS - NIH]

Saint Louis, Missouri 631101010 United States

Single Zip Code

Administrative Supplements to Existing NIH Grants and Cooperative Agreements (Parent Admin Supp Clinical Trial Optional) (PA-20-272)

Amendment Since initial award the total obligations have increased 386% from $2,500,000 to $12,145,211.