# Core C: Genomics and Transcriptomics

> **NIH NIH U54** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2023 · $363,863

## Abstract

PROJECT SUMMARY: CORE C: GENOMICS AND TRANSCRIPTOMICS
The primary objective of Core C is to support the genomics and transcriptomics needs of the U54 FTD
Center without Walls. Utilizing pre-existing whole genome sequencing data from 721 patients with neu-
rodegenerative disease and healthy older adult controls, this Core will provide foundational information
regarding variation in tau metabolism pathway genes that will be directly interrogated by the Center
through its Projects. Additional gene candidates nominated by the Center will be screened by Core C for
relevance to human neurodegenerative disease. In parallel, this Core will generate a `tau polygenic risk
score' (TPRS) that will be used to stratify samples at high versus low genetic risk for tau-mediated neu-
rodegeneration. These samples will be studied by Project 2 to elucidate the cellular processes by which
tau is dysregulated in patients with varying degrees of genetic risk for tau-mediated neurodegeneration.
Core C will also support the bioinformatics and statistical needs of the Projects throughout the study
period, including analysis of bulk and single-nucleus transcriptomics data generated by Project 2. All of
this data will be integrated into an informational database, the `Tau Metabolism and Variant database'
(TMVdb), in collaboration with administrative Core A. The TMVdb will be regularly updated and both it
and the data used to generate it will be made available to the research community through an analytical
workbench interface. All of the Core's proposed activities will contribute to the Center's primary goal of
understanding how human genetic variation contributes to tau metabolism and homeostasis and will be
critical to its success.

## Key facts

- **NIH application ID:** 10692746
- **Project number:** 5U54NS123985-03
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Jennifer S Yokoyama
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $363,863
- **Award type:** 5
- **Project period:** 2021-09-27 → 2026-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10692746

## Citation

> US National Institutes of Health, RePORTER application 10692746, Core C: Genomics and Transcriptomics (5U54NS123985-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10692746. Licensed CC0.

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