Dimitrios Avramopoulos
A5032828460- Genetic Associations and Epidemiology
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Bioinformatics and Genomic Networks
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Schizophrenia research and treatment
- Autism Spectrum Disorder Research
- CRISPR and Genetic Engineering
- Alzheimer's disease research and treatments
- Single-cell and spatial transcriptomics
- Pluripotent Stem Cells Research
- Bipolar Disorder and Treatment
- Genomics and Chromatin Dynamics
- Genetic Mapping and Diversity in Plants and Animals
- Health, Environment, Cognitive Aging
- RNA modifications and cancer
- Receptor Mechanisms and Signaling
- Congenital heart defects research
- Glaucoma and retinal disorders
- Tryptophan and brain disorders
- HER2/EGFR in Cancer Research
- Genetic Syndromes and Imprinting
- Gene expression and cancer classification
- HIV Research and Treatment
Johns Hopkins University
2016-2025
Johns Hopkins Medicine
2015-2024
Johns Hopkins Bayview Medical Center
2021-2023
University of Baltimore
2014-2021
Beth Israel Deaconess Medical Center
2021
University of Oregon
2018
Stanford University
2018
Salford Royal NHS Foundation Trust
2018
Lieber Institute for Brain Development
2018
Yale University
2018
Massively parallel reporter assays (MPRAs) have emerged as a popular means for understanding noncoding variation in variety of conditions. While large number experiments been described the literature, analysis typically uses ad-hoc methods. There has little attention to comparing performance methods across datasets. We present mpralm method which we show is calibrated and powerful, by analyzing its on multiple MPRA that it outperforms existing statistical this data type, first comprehensive...
Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X analyze genotypes with quantitative traits-plasma total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density triglycerides. Common variant association yields known loci except few variants previously poorly imputed. Rare coding Mendelian dyslipidemia genes but rare...
Although more than 2,400 genes have been shown to contain variants that cause Mendelian disease, there are still several thousand such diseases yet be molecularly defined. The ability of new whole-genome sequencing technologies rapidly indentify most the genetic in any given genome opens an exciting opportunity identify these disease genes. Here we sequenced whole a single patient with dominant metachondromatosis (OMIM 156250), and used partial linkage data from her small family focus our...
Abstract Motivation: The synapse is integral to the function of brain and may be an important source dysfunction underlying many neuropsychiatric disorders. Consequently, it excellent candidate for large-scale genomic proteomic study. However, while tools databases available annotation high-throughput DNA protein are generally robust, a comprehensive resource dedicated integration information about lacking. Results: We present integrated database, called SynaptomeDB, retrieve annotate genes...
Alzheimer's disease is a progressive neurodegenerative disorder with high prevalence in old age. It the most common cause of dementia, risk reaching 50% after age 85 years, and increasing population it one biggest healthcare challenges 21st century. Genetic variation an important contributor to for this disease, underlying estimated heritability about 70%. genetics research 1990s was successful identifying three genes accounting cases early-onset autosomal dominant inheritance, gene involved...
Here, we present a large (n = 107,207) genome-wide association study (GWAS) of general cognitive ability ("g"), further enhanced by combining results with large-scale GWAS educational attainment. We identified 70 independent genomic loci associated ability. Results showed significant enrichment for genes causing Mendelian disorders an intellectual disability phenotype. Competitive pathway analysis implicated the biological processes neurogenesis and synaptic regulation, as well gene targets...
Inflammation and maternal or fetal infections have been suggested as risk factors for schizophrenia (SZ) bipolar disorder (BP). It is likely that such environmental effects are contingent on genetic background. Here, in a genome-wide approach, we test the hypothesis exposures increase SZ BP dependent variants. We use genotype data, plasma IgG antibody measurements against Toxoplasma gondii, Herpes simplex virus type 1, Cytomegalovirus, Human Virus 6 food antigen gliadin well of C-reactive...
Effects of allele-specific open chromatin Genetic variants in noncoding regions the genome may underlie development disease. However, we are just beginning to tease apart function such associated with neuropsychiatric Using five types neural progenitor cells derived from 20 human induced pluripotent stem cell lines, Zhang et al. looked at (ASoC) variants. Many ASoC overlapped genomic elements, as transcription factor binding sites, and loci identified genome-wide association studies for...
De novo mutations (DNMs), or that appear in an individual despite not being seen their parents, are important source of genetic variation whose impact is relevant to studies human evolution, genetics, and disease. Utilizing high-coverage whole-genome sequencing data as part the Trans-Omics for Precision Medicine (TOPMed) Program, we called 93,325 single-nucleotide DNMs across 1,465 trios from array diverse populations, used them directly estimate analyze DNM counts, rates, spectra. We find a...
Abstract Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA , and highly heritable, causal risk factor for cardiovascular diseases varies in concentrations across ancestries. Here, we use deep-coverage whole genome sequencing 8392 individuals of European African ancestry to discover interpret both single-nucleotide variants copy number (CN) variation associated with Lp(a). We observe genetic determinants between Europeans...
Ketone bodies, the products of fat metabolism, are a source energy for brain and available even when glucose supplies inadequate (such as with severe carbohydrate deprivation) or its metabolism is faulty (as it in Alzheimer's disease). This phase I/II randomized clinical trial exa mined feasibility using modified Atkins diet (MAD) to induce ketogenesis persons mild cognitive impairment (MCI) early AD, effect this on memory other outcomes. In first 2.5 years active recruitment, only 27...