Eric R. Gamazon
A5091036407- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Epigenetics and DNA Methylation
- Gene expression and cancer classification
- Genetic Mapping and Diversity in Plants and Animals
- RNA modifications and cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- MicroRNA in disease regulation
- RNA Research and Splicing
- Cancer Treatment and Pharmacology
- Plant Molecular Biology Research
- Cancer-related molecular mechanisms research
- Circular RNAs in diseases
- Hearing, Cochlea, Tinnitus, Genetics
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- Pharmacogenetics and Drug Metabolism
- Nutrition, Genetics, and Disease
- Genomics and Phylogenetic Studies
- Genomics and Chromatin Dynamics
- Single-cell and spatial transcriptomics
- Microtubule and mitosis dynamics
- Genetics, Bioinformatics, and Biomedical Research
- Peroxisome Proliferator-Activated Receptors
Vanderbilt University Medical Center
2016-2025
University of Cambridge
2014-2025
Vanderbilt University
2016-2025
MRC Epidemiology Unit
2019-2025
Vanderbilt Health
2024
University of Chicago
2011-2023
QIMR Berghofer Medical Research Institute
2011-2021
Thermo Fisher Scientific (Sweden)
2020
Amsterdam UMC Location University of Amsterdam
2016-2019
University of Amsterdam
2016-2019
Genome-wide association studies have identified thousands of loci for common diseases, but, the majority these, mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many phenotypes. Here we describe Genotype-Tissue Expression (GTEx) project, which will establish a resource database and tissue bank scientific community study relationship...
Expression, genetic variation, and tissues Human genomes show extensive variation across individuals, but we have only just started documenting the effects of this on regulation gene expression. Furthermore, a few been examined per variant. In order to examine how expression varies among within Genotype-Tissue Expression (GTEx) Consortium collected 1641 postmortem samples covering 54 body sites from 175 individuals. They identified quantitative traits that affect determined which these...
The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.
Although genome-wide association studies (GWAS) of complex traits have yielded more reproducible associations than had been discovered using any other approach, the loci characterized to date do not account for much heritability such and, in general, led improved understanding biology underlying phenotypes. Using a web site we developed serve results expression quantitative trait locus (eQTL) lymphoblastoid cell lines from HapMap samples (http://www.scandb.org), show that single nucleotide...
Abstract Scalable, integrative methods to understand mechanisms that link genetic variants with phenotypes are needed. Here we derive a mathematical expression compute PrediXcan (a gene mapping approach) results using summary data (S-PrediXcan) and show its accuracy general robustness misspecified reference sets. We apply this framework 44 GTEx tissues 100+ from GWAS meta-analysis studies, creating growing public catalog of associations seeks capture the effects variation on human...
Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex in gene expression and genetic regulation across 44 tissue sources surveyed by Genotype-Tissue Expression project (GTEx, v8 release). demonstrate that influences levels cellular composition samples body. A total 37% all genes sex-biased at least one tissue. identify cis quantitative trait loci (eQTLs)...
Cell type composition, estimated from bulk tissue, maps the cellular specificity of genetic variants.
Telomere length within an individual varies in a correlated manner across most tissues.
Detangling gene-disease connections Many diseases are at least partially due to genetic causes that not always understood or targetable with specific treatments. To provide insight into the biology of various human as well potential leads for therapeutic development, Pietzner et al . undertook detailed, genome-wide proteogenomic mapping. The authors analyzed thousands between disease-associated mutations, proteins, and medical conditions, thereby providing a detailed map use by future...
To compare three groupings of Electronic Health Record (EHR) billing codes for their ability to represent clinically meaningful phenotypes and replicate known genetic associations. The tested coding systems were the International Classification Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes, Agency Healthcare Research Quality Software ICD-9-CM (CCS), manually curated "phecodes" designed facilitate phenome-wide association studies (PheWAS) in EHRs.We selected 100 disease...
The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify attributable all interrogated variants. We have quantified variance liability disease explained by SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded point estimate 0.58 (se = 0.09, p 5.64e-12) TS, 0.37...
Expression, genetic variation, and tissues Human genomes show extensive variation across individuals, but we have only just started documenting the effects of this on regulation gene expression. Furthermore, a few been examined per variant. In order to examine how expression varies among within Genotype-Tissue Expression (GTEx) Consortium collected 1641 postmortem samples covering 54 body sites from 175 individuals. They identified quantitative traits that affect determined which these...
<h3>Objectives</h3> Gastric colonisation with intestinal flora (IF) has been shown to promote <i>Helicobacter pylori</i> (<i>Hp</i>)-associated gastric cancer. However, it is unknown if the mechanism involves specific or diverse microbiota secondary atrophy. <h3>Design</h3> Altered Schaedler9s (ASF) and <i>Hp</i> were correlated pathology, immune responses mRNA expression for proinflammatory cancer-related genes in germ-free (GF), monoassociated (m<i>Hp</i>), restricted ASF (rASF; 3...
The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of biology human diseases. Here, we present an in-depth examination phenotypic consequences transcriptome regulation and a blueprint for functional interpretation genome-wide association study-discovered loci. Across broad set complex traits diseases, demonstrate widespread dose-dependent effects RNA expression splicing. We develop data-driven framework benchmark methods that...
African Americans have the highest breast cancer mortality rate. Although racial difference in distribution of intrinsic subtypes is known, it unclear if there are other inherent genomic differences that contribute to survival disparities.To investigate molecular features and estimate heritability subtypes.Among a convenience cohort patients with invasive cancer, tumor matched normal tissue sample data (as September 18, 2015) were obtained from The Cancer Genome Atlas.Breast cancer–free...
Abstract Aging is one of the most important biological processes and a known risk factor for many age-related diseases in human. Studying transcriptomic changes tissues across whole body can provide valuable information holistic understanding this fundamental process. In work, we catalogue gene expression nine from nearly two hundred individuals collected by Genotype-Tissue Expression (GTEx) project. general, find aging signatures are very tissue specific. However, enrichment some well-known...