A5038902711- Genetic Associations and Epidemiology
- Vasculitis and related conditions
- Prostate Cancer Treatment and Research
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- Urticaria and Related Conditions
- Genetic Mapping and Diversity in Plants and Animals
- Nutrition, Genetics, and Disease
- Cardiac electrophysiology and arrhythmias
- Cancer Genomics and Diagnostics
- Cancer-related gene regulation
- Health, Environment, Cognitive Aging
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Autoimmune Bullous Skin Diseases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Gene expression and cancer classification
- Health and Conflict Studies
- RNA Research and Splicing
- Global Peace and Security Dynamics
- Heart Failure Treatment and Management
- Renal Diseases and Glomerulopathies
- Cardiac pacing and defibrillation studies
- Otitis Media and Relapsing Polychondritis
University of Cambridge
2018-2023
Dana-Farber Cancer Institute
2019-2023
Brigham and Women's Hospital
2023
Cedars-Sinai Medical Center
2022
Harvard University
2019-2021
Bridge University
2019
Abstract To date, single-nucleotide polymorphisms (SNPs) have been the most intensively investigated class of in genome wide associations studies (GWAS), however, other classes such as insertion-deletion or multiple nucleotide length polymorphism (MNLPs) may also confer disease risk. Multiple reports shown that 5p15.33 prostate cancer risk region is a particularly strong expression quantitative trait locus (eQTL) for Iroquois Homeobox 4 ( IRX4) transcripts. Here, we demonstrate using...
Key Points The contribution of IV methylprednisolone to glucocorticoid toxicity is often overlooked with limited evidence supporting its use. Markedly reduced cumulative dosing for remission induction therapy in AAV safe and effective. Reduced radical steroid avoidance strategies have not been shown any significant adverse effect on outcomes. Background Glucocorticoids (GCs) remain integral the management ANCA-associated vasculitis (AAV), but are associated effects. Recent studies oral GC be...
Candidate causal risk variants from genome-wide association studies reside almost exclusively in noncoding regions of the genome and innovative approaches are necessary to understand their biological function. Multi-marker analysis genomic annotation (MAGMA) is a widely used program that nominates candidate genes by mapping single-nucleotide polymorphism summary statistics gene bodies. We augmented MAGMA create chromatin-MAGMA (chromMAGMA), method nominate based on presence within regulatory...
ABSTRACT Genome-wide association studies (GWASs) have identified thousands of genetic variants associated with common polygenic traits. The candidate causal risk reside almost exclusively in noncoding regions the genome and underlying mechanisms remain elusive for most. Innovative approaches are necessary to understand their biological function. Multimarker analysis genomic annotation (MAGMA) is a widely used program that nominates genes by mapping single-nucleotide polymorphism (SNP)...
Abstract Background Genome-wide association studies of prostate cancer have identified >250 significant risk loci, but the causal variants and mechanisms for these loci remain largely unknown. Here, we sought to identify characterize harboring regulatory elements by integrating epigenomes from primary tumor normal tissues 27 patients across H3K27ac, H3K4me3, H3K4me2 histone marks FOXA1 HOXB13 transcription factors. Results We 7,371 peaks with allele-specificity (asQTL peaks). Showcasing...
Abstract Introduction: Genome-wide association studies over the past 10 years have identified 100 common variants associated with breast cancer risk. The of these polymorphisms varies according to estrogen receptor status tumor, some primarily ER+ or ER- disease, both subtypes. However, ER expression in cells is continuous. aim this study was establish whether between polygenic risk scores and continuous nature. Methods: Data were taken from international Breast Cancer Association Consortium...
Abstract Although quantitative trait locus (QTL) associations have been identified for many molecular traits such as gene expression, it remains challenging to distinguish the causal nucleotide from nearby variants. In addition traditional QTLs by association, allele-specific (AS) are a powerful measure of cis-regulation that largely concordant with QTLs, and can be less susceptible technical/environmental noise. However, existing asQTL analysis methods do not produce probabilities causality...
Abstract BACKGROUND Anti-neutrophil cytoplasm antibodies (ANCA) associated vasculitis (AAV) is a rare and complex autoimmune disease. Induction remission maintenance treatment typically includes glucocorticoids (GC) in addition to other immunosuppressive medications. Recent trials such as PEXIVAS (1) ADVOCATE (2) have suggested lower dose GC induction with no significant detrimental effect on outcomes end-stage renal disease (ESRD) or mortality. METHOD A cohort study of biopsy-proven...