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Core C: Genomics and Transcriptomics

核心 C：基因组学和转录组学

基本信息

批准号：
10493224
负责人：
Jennifer S Yokoyama
金额：
$ 30.14万
依托单位：
UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-09-27 至 2026-08-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10493224
关键词：
Alzheimer&apos s Disease Amyotrophic Lateral Sclerosis Antisense Oligonucleotides Bioinformatics Biological Biological Process Biology C9ORF72 Candidate Disease Gene Cell Nucleus Cell physiology Clinical Collaborations Communities Data Data Set Databases Development Diagnosis Disease Elderly Family Foundations Frontotemporal Dementia Frontotemporal Lobar Degenerations Gene Mutation Genes Genetic Genetic Risk Genetic Variation Genomics Goals Homeostasis Human Human Genetics Inherited Knowledge Link MAPT gene Metabolism Molecular Chaperones Mutation Nerve Degeneration Neurodegenerative Disorders Parkinson Disease Pathogenicity Pathologic Pathway interactions Patients Peptide Hydrolases Pick Disease of the Brain Progressive Supranuclear Palsy Proteins Proteolysis Recording of previous events Research Risk Role Sampling Science Site Tauopathies Translations Update Variant corticobasal degeneration data sharing disorder risk frontotemporal lobar dementia-amyotrophic lateral sclerosis genetic risk factor genome sequencing human disease human genomics insight multidisciplinary neuropathology new therapeutic target novel polygenic risk score prevent protein TDP-43 proteostasis success synergism targeted treatment tau Proteins tau function therapeutic development tool transcriptomics whole genome

项目摘要

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.

项目概述：核心c：基因组学和转录组学