Abstracts

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Title Lead Author Name of Professional Meeting Meeting Date(s) Submitted Program #/ID
A novel data model for population descriptors in genomic research of diverse populations Gogarten, Stephanie Ethical and Inclusive Data Science and Artificial Intelligence to Improve Health February 6, 2025
IGES/ASHS/PRIMED Education Workshop Iain R. Konigsberg ASHG - American Society of Human Genetics Annual Meeting November 5, 2024 NA
Predicting Polygenic Score Accuracy with Neighbors in the Genetic Ancestry Continuum: Feng, Karen ASHG - American Society of Human Genetics Annual Meeting November 4-9, 2024 2024-A-3195-ASHG
Accounting for the effects of recent population structure on heritability estimation Shemirani, Ruhollah IGES - International Genetic Epidemiology Society November 3-5, 2024
Hidden Population Structure in the All of Us Research Project Shemirani, Ruhollah ASHG - American Society of Human Genetics Annual Meeting Nov 5-9, 2024
Comparison of methods for accurately estimating disease prevalence in diverse U.S. biobanks in the presence of participation bias Hanks, Sarah ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 4036T
Calibration of polygenic risk scores in African Americans using estimated genetic ancestry Vargas, Luciana B. ASHG - American Society of Human Genetics Annual Meeting November 5-9 2024-A-2550-ASHG
Applications and Evaluations of Polygenic Risk Scores in Cancer Outcomes: Context Matters Shen, Jiayi ASHG - American Society of Human Genetics Annual Meeting Nov 6, 2024 2024-A-3437-ASHG
Applications and Evaluations of Polygenic Risk Scores in Cancer Outcomes: Context Matters Shen, Jiayi IGES - International Genetic Epidemiology Society Nov 3, 2024
A novel data model for population descriptors in genomic research of diverse populations developed in the Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium Khan, Alyna ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 2024-A-4113-ASHG
Genome-wide association studies in a large Korean cohort identify novel quantitative trait loci for 36 traits and illuminate their genetic architectures Jee, Yon Ho ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 Sat, Nov 09 Four Seasons Ballroom 2&3 9:30am - 9:45am (Mountain) Presenter 003
Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction He, Yixuan ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 Wed, Nov 06 Four Seasons Ballroom 1 10:15am - 10:30am (Mountain) Presenter 003
All of Us diversity and scale improve polygenic prediction contextually with greatest improvements for under-represented populations Tsuo, Kristin ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 Wed, Nov 06 Room 401 10:30am - 10:45am (Mountain) Presenter 004
Efficient Penalized Regression Approach for Admixture-Aware Polygenic Risk Scores Ockerman, Franklin ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 2024-A-2796-ASHG
AI-STAAR: An ancestry-informed association analysis framework for large-scale multi-ancestry whole genome sequencing studies Li, Xihao ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024
Improving Polygenic Risk Prediction of Kidney Function by removing Biomarker Specific Genetics Du, Jiawen ASHG - American Society of Human Genetics Annual Meeting November 8, 2024
Incorporating Functional Annotations to Improve Polygenic Risk Prediction in Admixed Individuals Chen, Brian ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024
Polygenic risk score predicts incident cardiovascular disease in people with diabetes at borderline or intermediate 10-year ASCVD risk Choi, Jaewon ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 2024-A-818-ASHG
Enabling cloud-based sharing, harmonization, and analysis of secondary use data in the multi-institutional Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium Conomos, Matthew P. ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 2024-A-4183-ASHG
Performance of contemporary polygenic risk scores for atherosclerotic cardiovascular disease in the All of Us Workbench Smith, Johanna ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 2024-A-1093-ASHG
Characterization of the Phenotypic Consequences of the Duffy-Null Genotype Hysong, Micah ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 2024-A-884-ASHG
Identification of 489 type 2 diabetes shared and tissue specific effector genes by integrating eQTL data with a multi-ancestry GWAS of 2.5 million individuals Mandla, R ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023
Rare variant imputation with the TOPMed reference panel combined with whole-genome sequence data in 52,658 type 2 diabetes cases and 381,683 controls identifies novel rare variant associations and informs the spectrum of pathogenicity in monogenic diabete Huerta, Alicia ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 2023-A-2054-ASHG
Incorporating information from relevant endophenotypes improves polygenic risk score prediction for asthma. Kharitonova, Elena ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 PB4216
Use of polygenic risk scores to improve GFR estimating equations in CRIC and MESA Zhou, Laura ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 Session 103
Genome-Wide Polygenic Risk Score Predicts Incident Type 2 Diabetes in Women with History of Gestational Diabetes Choi, Jaewon ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 1206/A
Leveraging multiple fine-tuning datasets and genetic ancestry continuum information to harmonize PRS for admixed populations Rohan Bhukar ASHG - American Society of Human Genetics Annual Meeting Nov 1 - Nov 5, 2023 A-4528
Exploring plateau and saturation of PRS accuracy in the multi-populations and multi-trait model Ruan, Yunfeng ASHG - American Society of Human Genetics Annual Meeting Nov 1 - Nov 5, 2023 PB4144
Comprehensive polygenic prediction of respiratory diseases: a cross biobank multi-trait and multi-ancestry approach Yixuan He ASHG - American Society of Human Genetics Annual Meeting November 4, 2023 PB4099
Deciphering the current landscape of PGS prediction in diverse populations – phenome-wide evaluations of genetic risk in the biobank at the Colorado Center for Personalized Medicine Lin, Meng ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 2023-A-4806-ASHG
Guidelines from the PRIMED Consortium on the use of population descriptors in polygenic risk model development and application Kraft, Peter AACR Conference on the Science of Cancer Health Disparities in Racial /Ethnic Minorities and the Medically Underserved September 29 - October 2, 2023
Mass General Brigham Biobank – Insights from a New England Healthcare Biobank Koyama, Satoshi ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023
Towards Precision Medicine: Factor Analysis-Driven Phenome-wide Data Integration for Enhanced Polygenic Score Performance Wang, Ying ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 4026
Impact of heterogeneity-by-ancestry on GWAS in admixed populations. Mester, Rachel ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB3445
Polygenic score performance varies across the continuum of genetic ancestry in all human populations Ding, Yi ASHG - American Society of Human Genetics Annual Meeting October 25-28, 2022 222
Low-coverage sequencing induces uncertainty in polygenic scoring Petter, Ella ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB3495
Polygenic prediction across populations is influenced by ancestry, genetic architecture, and methodology Wang, Ying ASHG - American Society of Human Genetics Annual Meeting 10/27/2022 3:00:00 PM - 4:45:00 PM PT PB3548
Leveraging genomic diversity for discovery in an EHR-linked biobank: The UCLA ATLAS Community Health Initiative Johnson, Ruth ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 ProgNbr 328
Polygenic risk scores for coronary heart disease in diverse populations using population-specific optimization Smith, Johanna ASHG - American Society of Human Genetics Annual Meeting October 25-28, 2022 PB3549
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