Rasika A. Mathias
A5064545811- Genetic Associations and Epidemiology
- Asthma and respiratory diseases
- Epigenetics and DNA Methylation
- IL-33, ST2, and ILC Pathways
- Genomics and Rare Diseases
- Dermatology and Skin Diseases
- Antiplatelet Therapy and Cardiovascular Diseases
- Genetic Mapping and Diversity in Plants and Animals
- Platelet Disorders and Treatments
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Fatty Acid Research and Health
- Genetic and phenotypic traits in livestock
- Eosinophilic Esophagitis
- Food Allergy and Anaphylaxis Research
- RNA modifications and cancer
- Bioinformatics and Genomic Networks
- Allergic Rhinitis and Sensitization
- Helicobacter pylori-related gastroenterology studies
- Nutrition, Genetics, and Disease
- Lipid metabolism and disorders
- Lipid metabolism and biosynthesis
- Telomeres, Telomerase, and Senescence
- Acute Myeloid Leukemia Research
Johns Hopkins Medicine
2016-2025
Johns Hopkins University
2016-2025
University of Colorado Anschutz Medical Campus
2021-2024
National Institute of Allergy and Infectious Diseases
2024
CSL (Australia)
2024
University of Baltimore
2016-2023
Immune Tolerance Network
2022
University of Colorado Denver
2020
Johns Hopkins Bayview Medical Center
2020
University Medical Center
2020
Identifying the ancestry of chromosomal segments distinct has a wide range applications from disease mapping to learning about history. Most methods require use unlinked markers; but, using all markers genome-wide scanning arrays, it should in principle be possible infer even very small with exquisite accuracy. We describe method, HAPMIX, which employs an explicit population genetic model perform such local inference based on fine-scale variation data. show that HAPMIX outperforms other...
We used a deeply sequenced dataset of 910 individuals, all African descent, to construct set DNA sequences that is present in these individuals but missing from the reference human genome. aligned 1.19 trillion reads genome (GRCh38), collected failed align, and assembled into contiguous (contigs). then compared contigs one another identify unique representing regions pan-genome Our analysis revealed 296,485,284 bp 125,715 distinct populations demonstrating contains ~10% more than current...
Asthma is a complex disease that has genetic and environmental causes. The factors associated with susceptibility to asthma remain largely unknown.
Most genome-wide association and fine-mapping studies to date have been conducted in individuals of European descent, genetic populations Hispanic/Latino African ancestry are limited. In addition, these more complex linkage disequilibrium structure. order better define the architecture understudied populations, we leveraged >100,000 phased sequences available from deep-coverage whole genome sequencing through multi-ethnic NHLBI Trans-Omics for Precision Medicine (TOPMed) program impute...
OBJECTIVE The metabolic syndrome (MetS) is defined as concomitant disorders of lipid and glucose metabolism, central obesity, high blood pressure, with an increased risk type 2 diabetes cardiovascular disease. This study tests whether common genetic variants pleiotropic effects account for some the correlated architecture among five phenotypes that define MetS. RESEARCH DESIGN AND METHODS Seven studies STAMPEED consortium, comprising 22,161 participants European ancestry, underwent...
Summary paragraph The Trans-Omics for Precision Medicine (TOPMed) program seeks to elucidate the genetic architecture and disease biology of heart, lung, blood, sleep disorders, with ultimate goal improving diagnosis, treatment, prevention. initial phases focus on whole genome sequencing individuals rich phenotypic data diverse backgrounds. Here, we describe TOPMed goals design as well resources early insights from sequence data. include a variant browser, genotype imputation panel, sharing...
Abstract Heritability, the proportion of phenotypic variance explained by genetic factors, can be estimated from pedigree data 1 , but such estimates are uninformative with respect to underlying architecture. Analyses genome-wide association studies (GWAS) on unrelated individuals have shown that for human traits and disease, approximately one-third two-thirds heritability is captured common SNPs 2–5 . It not known whether remaining due imperfect tagging causal variants SNPs, in particular...
Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records, enabling analyses entire phenome. Many these focus solely on research insights, leading limited direct benefit patients. We describe biobank at Colorado Center for Personalized Medicine (CCPM Biobank) that was jointly developed by University Anschutz Medical Campus and UCHealth serve as unique, dual-purpose clinical resource accelerating...
Abstract Polygenic risk scores (PRS) have shown successes in clinics, but most PRS methods focus only on participants with distinct primary continental ancestry without accommodating recently-admixed individuals mosaic backgrounds for different segments of their genomes. Here, we develop GAUDI, a novel penalized-regression-based method specifically designed admixed individuals. GAUDI explicitly models ancestry-differential effects while borrowing information across shared We demonstrate...
Background Genome‐wide association studies have identified several hundred susceptibility single nucleotide variants for coronary artery disease (CAD). Despite variant‐based genome‐wide improving our understanding of the genetics CAD, contribution structural (SVs) to risk CAD remains largely unclear. Method and Results We leveraged SVs detected from high‐coverage whole genome sequencing data in a diverse group participants National Heart Lung Blood Institute's Trans‐Omics Precision Medicine...
Thymic stromal lymphopoietin (TSLP) triggers dendritic cell--mediated T helper (Th) 2 inflammatory responses. A single-nucleotide polymorphism (SNP), rs3806933, in the promoter region of TSLP gene creates a binding site for transcription factor activating protein (AP)-1. The variant enhances AP-1 to regulatory element, and increases promoter--reporter activity response polyinosinic-polycytidylic acid (poly[I:C]) stimulation normal human bronchial epithelium (NHBE). We investigated whether...
Mutations in the essential telomerase genes TERT and TR cause familial pulmonary fibrosis; however, telomerase-null mice, short telomeres predispose to emphysema after chronic cigarette smoke exposure. Here, we tested whether mutations are a risk factor for human by examining their frequency smokers with obstructive disease (COPD). Across two independent cohorts, found 3 of 292 severe COPD cases carried deleterious (1%). This prevalence is comparable alpha-1 antitrypsin deficiency documented...
Over the past 50 years, increases in dietary n-6 PUFA, such as linoleic acid, have been hypothesised to cause or exacerbate chronic inflammatory diseases. The present study examines an individual's innate capacity synthesise long-chain PUFA (LC-PUFA) with respect fatty acid desaturase (FADS) locus Americans of African and European descent diabetes metabolic syndrome. Compared (EAm), (AfAm) exhibited markedly higher serum levels arachidonic (AA) (EAm 7·9 (sd 2·1), AfAm 9·8 1·9) % total acids;...
Abstract The African Diaspora in the Western Hemisphere represents one of largest forced migrations history and had a profound impact on genetic diversity modern populations. To date, fine-scale population structure descendants remains largely uncharacterized. Here we present variation from deeply sequenced genomes 642 individuals North South American, Caribbean West populations, substantially increasing lexicon human genomic suggesting much to be discovered African-admixed populations...
Abstract Genome‐wide association studies (GWAS) have emerged as powerful means for identifying genetic loci related to complex diseases. However, the role of environment and its potential interact with key has not been adequately addressed in most GWAS. Networks collaborative involving different study populations multiple phenotypes provide a approach addressing challenges analysis interpretation shared across studies. The Gene, Environment Association Studies (GENEVA) consortium was...