Rasika A. Mathias
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View article: Mediation of Polygenic Asthma Risk Through Gene Expression
Mediation of Polygenic Asthma Risk Through Gene Expression Open
Background Existing asthma polygenic risk scores (PRSs) have minimal validation in African‐ancestry populations, leaving gaps in our understanding of the wide applicability of PRSs. To widen our understanding of the applicability of asthma…
The effect of long-term adherence to physical activity recommendations in midlife on plasma proteins associated with frailty in the Atherosclerosis Risk in Communities (ARIC) study Open
Clinical trials have shown favorable effects of exercise on frailty, supporting physical activity (PA) as a treatment and prevention strategy. Proteomics studies suggest that PA alters levels of many proteins, some of which may function as…
View article: Whole genome sequence association analysis of brain structural volume measures in the NHLBI TOPMed Program highlights novel loci in diverse participants
Whole genome sequence association analysis of brain structural volume measures in the NHLBI TOPMed Program highlights novel loci in diverse participants Open
Brain structural volumes are highly heritable and are linked to multiple neuropsychological outcomes, including Alzheimer’s disease (AD). Genome-wide association studies have successfully identified genetic variants associated with intracr…
A rapid accurate approach to inferring pedigrees in endogamous populations Open
Accurate reconstruction of pedigrees from genetic data remains a challenging problem. Many relationship categories (e.g. half-sibships vs avuncular) can be difficult to distinguish without external information. Pedigree inference algorithm…
View article: A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels Open
Coagulation factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are critical to coagulation and platelet aggregation. We leveraged whole-genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) program …
View article: cellSTAAR: Incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of non-coding regions
cellSTAAR: Incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of non-coding regions Open
Whole genome sequencing (WGS) studies have identified hundreds of millions of rare variants (RVs) and have enabled RV association tests (RVATs) of these variants with complex traits and diseases. Analysis of non-coding variants is challeng…
View article: Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants
Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants Open
Background Genome‐wide association studies have identified several hundred susceptibility single nucleotide variants for coronary artery disease (CAD). Despite single nucleotide variant‐based genome‐wide association studies improving our u…
View article: Prediction and Characterization of Genetically Regulated Expression of Target Tissues in Asthma
Prediction and Characterization of Genetically Regulated Expression of Target Tissues in Asthma Open
Background Genetic control of gene expression in asthma-related tissues is not well-characterized, particularly for African-ancestry populations, limiting advancement in our understanding of the increased prevalence and severity of asthma …
View article: General Kernel Machine Methods for Multi‐Omics Integration and Genome‐Wide Association Testing With Related Individuals
General Kernel Machine Methods for Multi‐Omics Integration and Genome‐Wide Association Testing With Related Individuals Open
Integrating multi‐omics data may help researchers understand the genetic underpinnings of complex traits and diseases. However, the best ways to integrate multi‐omics data and use them to address pressing scientific questions remain a chal…
View article: Session Introduction: Overcoming health disparities in precision medicine: Intersectional approaches in precision medicine
Session Introduction: Overcoming health disparities in precision medicine: Intersectional approaches in precision medicine Open
The following sections are included: Overview, Advancing multi-ancestry genetic research, Integrating social determinants of health to enhance genetic risk models, Methods to detect and mitigate disparities, Addressing Disparities in Adver…
The effect of long-term adherence to physical activity recommendations in midlife on plasma proteins associated with frailty in the Atherosclerosis Risk in Communities (ARIC) study Open
Clinical trials have shown favorable effects of exercise on frailty, supporting physical activity (PA) as a treatment and prevention strategy. Proteomics studies suggest that PA alters levels of many proteins, some of which may function as…
View article: The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations
The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations Open
Clonal hematopoiesis (CH) is defined by the expansion of a lineage of genetically identical cells in blood. Genetic lesions that confer a fitness advantage, such as point mutations or mosaic chromosomal alterations (mCAs) in genes associat…
Multi-omics in nasal epithelium reveals three axes of dysregulation for asthma risk in the African Diaspora populations Open
Asthma has striking disparities across ancestral groups, but the molecular underpinning of these differences is poorly understood and minimally studied. A goal of the Consortium on Asthma among African-ancestry Populations in the Americas …
View article: EndoPRS: Incorporating Endophenotype Information to Improve Polygenic Risk Scores for Clinical Endpoints
EndoPRS: Incorporating Endophenotype Information to Improve Polygenic Risk Scores for Clinical Endpoints Open
Polygenic risk score (PRS) prediction of complex diseases can be improved by leveraging related phenotypes. This has motivated the development of several multi-trait PRS methods that jointly model information from genetically correlated tr…
View article: Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes Open
Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted …
View article: Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood Open
Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in human blood. The presence of mLOY is associated with altered blood cell counts and increased risk of Alzheimer’s disease, solid tumors, and other age-rel…