Dimitrios Avramopoulos

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

The paper introduces MultiSTAAR, a statistical framework for multi-trait rare variant analysis in WGS studies, identifying new lipid trait associations in diverse populations.

The paper tests a schizophrenia-associated variant near TSNARE1 and ADGRB1 for functional effects, showing allele-specific transcriptional differences and pathway enrichment in synaptic processes.

The paper analyzes single-cell transcriptomics data of iPSC-derived neurons and astrocytes to assess their similarity to in vivo counterparts and their disease-related gene expression patterns.

The paper compares transcriptomes of excitatory neurons from Alzheimer's patients and controls, identifying 621 differentially expressed genes and linking them to known Alzheimer's genes and functional networks.

This study evaluates the mouse neural precursor cell line SN4741 as a proxy for midbrain dopaminergic neurons using genomic techniques and finds it lacks key dopaminergic markers and chromatin features.

This study knocks out the DPYSL2-B isoform in human iPSC-derived neurons, showing reduced dendrite length and transcriptomic changes linked to mTOR signaling and schizophrenia.

The paper introduces a framework for detecting noncoding rare variant associations using whole-genome sequencing data, applying it to lipid traits in the TOPMed program.

The paper performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

The paper reports whole-genome association analyses of sleep-disordered breathing traits in the NHLBI TOPMed program, identifying rare and common variant associations.

The paper uses whole genome sequencing to identify genetic loci associated with platelet aggregation, including novel variants in RGS18, SVEP1, and PEAR1.

This paper identifies potential nootropic drug targets by integrating large-scale cognitive GWAS and transcriptomic data to find credible druggable genes.

The paper performs mediation analysis on schizophrenia-associated variants using brain gene expression datasets to determine how eQTL target genes mediate risk, finding that expression effects often have unexpected directions.

The paper investigates the transcriptomic response of induced excitatory neurons to Clozapine, finding significant upregulation of cholesterol metabolism genes.

CRISPR Del/Rei is a pipeline for scarless genome editing of iPSCs, achieving high efficiency and rare off-target effects in ~2 months.

The paper analyzes de novo mutations in 1,465 genomes to show similar mutation rates across ancestries but reduced rates in the Amish population, with environmental factors possibly influencing mutation rates.

The paper presents twelve hiPSC lines with extreme polygenic risk scores for schizophrenia, available for CRISPR-based functional studies.

This paper evaluates the potential benefits of using polygenic scores to select embryos for traits like height and cognitive function, finding limited gains with current predictors.

The paper tests 1,049 schizophrenia-associated variants using MPRA to identify functional effects on gene expression, finding no preference for risk alleles to increase or decrease expression.

The paper uses pleiotropic meta-analysis to identify genetic loci associated with cognition, education, and schizophrenia, revealing distinct biological mechanisms for concordant and discordant genetic correlations.

The paper introduces mpralm, a linear model for differential activity analysis in MPRA data, showing it outperforms existing methods and provides power analysis recommendations.

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

The paper uses whole genome sequencing to identify genetic variants associated with plasma lipoprotein(a) levels and finds high heritability and inter-ethnic differences in Lp(a) risk.

This study identifies 206 new genomic loci and 1,041 genes associated with intelligence using a large GWAS meta-analysis of 279,930 individuals.

This study identifies 99 genetic loci associated with general cognitive function using data from 280,360 individuals, finding genes linked to brain structure and neurodegenerative disorders.

This study performs a large-scale GWAS of cognitive ability, identifies 70 genomic loci, and finds tissue-specific gene expression and potential drug targets.