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PRS Center for Admixed Populations and Health Equity (CAPE)

PRS 混合人口和健康公平中心 (CAPE)

基本信息

批准号：
10618377
负责人：
Eimear Elizabeth Kenny
金额：
$ 96.8万
依托单位：
UNIVERSITY OF CALIFORNIA LOS ANGELES
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：
2021-06-08 至 2026-03-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10618377
关键词：
Acceleration Address Admixture African American population African ancestry Americas Asian ancestry Awareness Benchmarking Calibration Clinical Data Cohort Studies Colorado Complex Data Data Set Databases Development Disease East Asian Electronic Health Record Environmental Risk Factor Epidemiology Equity Ethnic Origin European European ancestry Event Gene Expression Genetic Genetic Determinism Genetic Drift Genetic Models Genetic Variation Genetic study Genome Genomic medicine Genomics Genotype Health system Heterogeneity Hispanic Americans Human Incidence Individual Jackson Heart Study Link Location Longitudinal cohort Maps Medical Medicine Methods Mexican Americans Modeling Molecular Participant Patient Self-Report Population Population Genetics Process Proxy Puerto Rican Race Relative Risks Research Risk Risk Factors Sample Size Slave Socioeconomic Status Source Statistical Methods Structure System Testing Uncertainty Variant World Health biobank causal variant cohort data harmonization data integration digital health disease natural history empowerment genetic architecture genome-wide genomic data health data health equity health management improved interest migration mosaic novel patient population phenotypic data polygenic risk score population based portability pressure social health determinants tool trait transcriptome urban setting

项目摘要

Project Summary/Abstract Polygenic risk scores (PRS), that aggregate risk across common variants in the genome, have emerged as a powerful tool towards implementing genomic medicine. Unfortunately, the vast majority of genomic data from which current PRS are estimated is coming from European ancestry individuals thus prohibiting the implementation of PRS for non-European individuals. To address this gap, multiple large-scale genomic studies are currently performed in non-European individuals. Of particular interest are individuals with recent ancestry from multiple continental sources such as African Americans and/or Hispanic Americans whose genomes are a mosaic of segments of various ancestries. Such diversity in genetic ancestry raises unique challenges in the equitable PRS development as the accuracy and bias of existing PRS varies across genomic ancestries. Unlike existing paradigm that largely views genetic ancestry as a confounder in PRS studies, we aim to fully integrate population genetics of the admixture process to yield admixture-PRS that provide equitable accuracies for all individuals irrespective of genetic ancestries. We will integrate data of over 230,000 admixed individuals across five diverse medical systems including UCLA, Mt Sinai, Colorado to develop, calibrate and benchmark PRS for admixed individuals.

项目总结/文摘

项目成果

期刊论文数量（5）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Accounting for isoform expression increases power to identify genetic regulation of gene expression.

考虑同种型表达增加了识别基因表达的遗传调控的能力。

DOI：
10.1371/journal.pcbi.1011857
发表时间：
2024
期刊：
PLoS computational biology
影响因子：
4.3
作者：
LaPierre,Nathan;Pimentel,Harold
通讯作者：
Pimentel,Harold

Admix-kit: An Integrated Toolkit and Pipeline for Genetic Analyses of Admixed Populations.

Admix-kit：用于混合群体遗传分析的集成工具包和管道。

DOI：
10.1101/2023.09.30.560263
发表时间：
2023
期刊：
bioRxiv : the preprint server for biology
影响因子：
0
作者：
Hou,Kangcheng;Gogarten,Stephanie;Kim,Joohyun;Hua,Xing;Dias,Julie-Alexia;Sun,Quan;Wang,Ying;Tan,Taotao;PolygenicRiskMethodsinDiversePopulations(PRIMED)ConsortiumMethodsWorkingGroup;Atkinson,ElizabethG;Martin,Alicia;Shortt,J
通讯作者：
Shortt,J

Tractable and Expressive Generative Models of Genetic Variation Data.

遗传变异数据的易处理且富有表现力的生成模型。