Daniel J. Schaid
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View article: Admixture Mapping of Lipid Traits in Hispanic Americans
Admixture Mapping of Lipid Traits in Hispanic Americans Open
Background Admixture mapping can be leveraged to identify genomic loci associated with disease traits in admixed individuals such as Hispanic Americans. Methods and Results We characterized fine‐scale population structure of participants (…
View article: Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancer
Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancer Open
As these results corroborate findings from other studies using orthogonal methods, we demonstrate that a CRC PRS can be used as a proxy for genetic risk for CRC when investigating shared genetics between CRC and other phenotypes. Further s…
View article: Mixed-effects polygenic risk score Phenome-wide association study detects genetic correlation between colorectal cancer risk and phenotype data extracted from the electronic health record
Mixed-effects polygenic risk score Phenome-wide association study detects genetic correlation between colorectal cancer risk and phenotype data extracted from the electronic health record Open
Many factors, including environmental and genetic variables, contribute to Colorectal Cancer (CRC) risk. Some of these risk factors may share underlying genetics with CRC. We investigated potential shared genetics by performing a Phenome-w…
View article: Development and Evaluation of a Comprehensive Prediction Model for Incident Coronary Heart Disease Using Genetic, Social, and Lifestyle–Psychological Factors: A Prospective Analysis of the UK Biobank
Development and Evaluation of a Comprehensive Prediction Model for Incident Coronary Heart Disease Using Genetic, Social, and Lifestyle–Psychological Factors: A Prospective Analysis of the UK Biobank Open
National Human Genome Research Institute.
View article: Polygenic scores and social determinants of health: Their correlations and potential biases
Polygenic scores and social determinants of health: Their correlations and potential biases Open
The use of polygenic scores (PGS) for personalized medicine has gained momentum, along with caution to avoid accentuating health disparities. Greater ancestral diversity in genetic studies is needed, as well as close attention to the socia…
View article: Constructing a multi-ancestry polygenic risk score for uterine fibroids using publicly available data highlights need for inclusive genetic research
Constructing a multi-ancestry polygenic risk score for uterine fibroids using publicly available data highlights need for inclusive genetic research Open
Uterine leiomyomata, or fibroids, are common gynecological tumors causing pelvic and menstrual symptoms that can negatively affect quality of life and child-bearing desires. As fibroids grow, symptoms can intensify and lead to invasive tre…
View article: Comparative Performance of Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease Subtypes in the<i>All of Us</i>Research Program
Comparative Performance of Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease Subtypes in the<i>All of Us</i>Research Program Open
Background Performance and portability of contemporary polygenic risk scores (PRS) for atherosclerotic cardiovascular disease (ASCVD) phenotypes vary based on different methods, training data, and trait ascertainment. Objectives We aimed t…
View article: Polygenic Risk and Coronary Artery Disease Severity
Polygenic Risk and Coronary Artery Disease Severity Open
BACKGROUND: Coronary atherosclerotic burden and adverse coronary heart disease events are related phenotypes with likely shared genetic cause. METHODS: We analyzed 6021 patients with available coronary angiography, genotyping, and exome se…
View article: Polygenic Prediction of Cellular Immune Responses to Mumps Vaccine
Polygenic Prediction of Cellular Immune Responses to Mumps Vaccine Open
In this report, we provide a follow-up analysis of a previously published genome-wide association study of host genetic variants associated with inter-individual variations in cellular immune responses to mumps vaccine. Here we report the …
View article: Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization Open
BACKGROUND: Predictive performance of polygenic risk scores (PRS) varies across populations. To facilitate equitable clinical use, we developed PRS for coronary heart disease (CHD; PRS CHD ) for 5 genetic ancestry groups. METHODS: We deriv…
View article: Supplemental Figure 1 from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up
Supplemental Figure 1 from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up Open
Supplemental Figure 1: The Study Schema Defines Information Collected During Each Patient Visit and at Each Follow-Up Time Point. Visit 1 consisted of a baseline breast cancer risk assessment (NCI-BCRAT and IBIS BC risk scores without PRS)…
View article: Supplemental Figure 1 from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up
Supplemental Figure 1 from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up Open
Supplemental Figure 1: The Study Schema Defines Information Collected During Each Patient Visit and at Each Follow-Up Time Point. Visit 1 consisted of a baseline breast cancer risk assessment (NCI-BCRAT and IBIS BC risk scores without PRS)…
View article: Data from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up
Data from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up Open
Refinement of breast cancer risk estimates with a polygenic-risk score (PRS) may improve uptake of risk-reducing endocrine therapy (ET). A previous clinical trial assessed the influence of adding a PRS to traditional risk estimates on ET u…
View article: Supplemental Materials and Methods 1 from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up
Supplemental Materials and Methods 1 from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up Open
The Supplemental Materials and Methods file depicts a representative graphical report provided to participants at Visits 1 and 2 that illustrates the participant’s estimated 5-year, 10-year, and remaining lifetime breast cancer risk (deter…
View article: Data from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up
Data from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up Open
Refinement of breast cancer risk estimates with a polygenic-risk score (PRS) may improve uptake of risk-reducing endocrine therapy (ET). A previous clinical trial assessed the influence of adding a PRS to traditional risk estimates on ET u…
View article: Supplemental Materials and Methods 1 from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up
Supplemental Materials and Methods 1 from Breast Cancer Polygenic-Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-Up Open
The Supplemental Materials and Methods file depicts a representative graphical report provided to participants at Visits 1 and 2 that illustrates the participant’s estimated 5-year, 10-year, and remaining lifetime breast cancer risk (deter…
View article: Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations Open
Polygenic risk scores (PRSs) have improved in predictive performance, but several challenges remain to be addressed before PRSs can be implemented in the clinic, including reduced predictive performance of PRSs in diverse populations, and …
View article: Joint Association of Polygenic Risk and Social Determinants of Health with Coronary Heart Disease in the United States
Joint Association of Polygenic Risk and Social Determinants of Health with Coronary Heart Disease in the United States Open
Background The joint effects of polygenic risk and social determinants of health (SDOH) on coronary heart disease (CHD) in the United States are unknown. Methods In 67,256 All of Us (AoU) participants with available SDOH data, we ascertain…
View article: A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease
A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease Open
Polygenic scores (PGS) for coronary heart disease (CHD) are constructed using GWAS summary statistics for CHD. However, pleiotropy is pervasive in biology and disease-associated variants often share etiologic pathways with multiple traits.…
View article: A Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization
A Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization Open
Background Predictive performance of polygenic risk scores (PRS) varies across populations. To facilitate equitable clinical use, we developed PRS for coronary heart disease (PRS CHD ) for 5 genetic ancestry groups. Methods We derived ance…