# Genetics Core

> **NIH NIH P01** · WASHINGTON UNIVERSITY · 2024 · $124,948

## Abstract

PROJECT SUMMARY
Abstract: Genetics Core
Understanding the genetic basis of CM is a major goal of these projects. Since obtaining DNA from patients and
generating large amounts of sequence data will require extensive computational, bioinformatic and statistical
analyses, we have established a Genetics Core to serve these critical needs. In addition, this Core will provide
a major data-storage and data-sharing function for both this PPG and for investigators worldwide. This Core will
have three Specific Aims. Aim 1 will focus on performing all the NGS and analysis for this PPG. The Core
personnel will work closely with Project investigators in the design of proposed experiments, and will provide
standard analysis for each project. Critical to this application, the Genetics Core personnel will also provide data
interpretation and additional follow-up data-driven iterative analyses as are often required. This will permit major
increase in efficiency by having computational biologists dedicated to this PPG; will offer an iterative approach
since analysis of NGS data is complex and experiment driven and will provide consistency regarding analytic
approaches. We will guarantee data storage, management and transfer of genetic data. All relevant genomic
results (those found to be predictive of CM or CM-related traits) will be transferred to a database maintained by
the Clinical core, where they will be incorporated with phenotype/outcome data to generate a user-friendly
interface that enables the simultaneous queries by PPG investigators of phenotype sequence variants, as well
as other genes involved in CM. Lastly we will be focused on providing local and public data sharing. We will
ensure that raw and analyzed sequencing data are submitted to stable repositories that are accepted by the
research community and in accordance with NIH Data Sharing policy. Therefore, a major goal of the Genetics
Core will be to expand public access to the generated genomic data by interactive public web tools. Within the
last year of the PPG we will generate a public web site with a user-friendly interface that enables queries on
genetic and phenotypic datasets simultaneously. Ultimately the Genetics core represents a central conduit for
genomic and bioinformatics flow of data of this PPG therefore contributing significantly to further understanding
the genetics basis of CM.

## Key facts

- **NIH application ID:** 10876259
- **Project number:** 5P01NS131131-02
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Carlos Cruchaga
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $124,948
- **Award type:** 5
- **Project period:** 2023-07-01 → 2028-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10876259

## Citation

> US National Institutes of Health, RePORTER application 10876259, Genetics Core (5P01NS131131-02). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10876259. Licensed CC0.

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