Laura J. Scott

Genetic integration with cell-specific nucleosome positioning resolves causal relationships underlying chromatin accessibility profiles

The paper maps cell type-specific genetic effects on nucleosome-free regions and nucleosome occupancy using snATAC-seq data from human muscle biopsies, showing causal relationships between these elements and GWAS traits.

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed

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.

Inverse directions of association of higher physical activity and higher insulin resistance with human skeletal muscle cell type abundance and fiber type-level gene expression

The paper examines how physical activity and insulin resistance relate to skeletal muscle cell type abundance and gene expression in humans, finding inverse associations with specific cell types and gene expression patterns.

Proteome-Wide Association Studies for Blood Lipids and Comparison with Transcriptome-Wide Association Studies

The paper conducts proteome-wide and transcriptome-wide association studies for blood lipids, finding high-level consistency between proteome and transcriptome-lipid associations across tissues.

Population-scale skeletal muscle single-nucleus multi-omic profiling reveals extensive context specific genetic regulation

The paper performs population-scale single-nucleus multi-omic profiling of skeletal muscle to identify genetic regulation across cell types and traits.

Adipose tissue eQTL meta-analysis reveals the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits

The paper identifies additional eQTL signals in adipose tissue and shows they contribute to cardiometabolic traits through gene dosage effects.

Multi-ancestry GWAS of major depression aids locus discovery, fine-mapping, gene prioritisation, and causal inference

This paper conducts a multi-ancestry GWAS of major depression, identifying 190 loci and 354 genes, with findings showing increased fine-mapping power and bidirectional BMI relationship in European ancestry samples.

ACE2 expression in adipose tissue is associated with COVID-19 cardio-metabolic risk factors and cell type composition

The paper examines the association between adipose tissue ACE2 expression and cardio-metabolic risk factors, finding lower ACE2 levels linked to T2D, obesity, and inflammation-related cell type changes.

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases

This study identifies 303 novel genetic signals associated with plasma metabolites in Finnish men, revealing biological insights into disease mechanisms.

A powerful subset-based gene-set analysis method identifies novel associations and improves interpretation in UK Biobank

GAUSS identifies gene-set-phenotype associations using GWAS summary statistics, improving power and interpretability in UK Biobank data.

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

This paper introduces RUTH, a new HWE test that accounts for population structure and genotype uncertainty, showing it reduces false positives compared to traditional methods.

Exome sequencing in bipolar disorder reveals shared risk gene AKAP11 with schizophrenia

The paper reports exome sequencing findings in bipolar disorder, identifying AKAP11 as a shared risk gene with schizophrenia through ultra-rare protein-truncating variants.

A versatile toolkit for molecular QTL mapping and meta-analysis at scale

APEX is a toolkit for molecular QTL mapping and meta-analysis that improves scalability and accuracy for large datasets and summary statistics.

Influence of genetic variants on gene expression in human pancreatic islets - implications for type 2 diabetes

The paper investigates how genetic variants affect gene expression in human pancreatic islets and identifies candidate genes linked to type 2 diabetes.

Ancestry-agnostic estimation of DNA sample contamination from sequence reads

This paper introduces a contamination estimation method that is agnostic to genetic ancestry, improving accuracy in DNA sample analysis.

Genomic Prediction of Depression Risk and Resilience Under Stress

This study uses a polygenic risk score to predict depression under stress in physicians, finding it more predictive than baseline depression.

Exome sequencing identifies high impact trait-associated alleles enriched in Finns

Exome sequencing in Finnish populations identifies rare trait-associated alleles with higher frequencies and geographical clustering, revealing 30 novel associations with quantitative traits.

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

This study identifies 46 novel genetic loci associated with alcohol consumption and suggests shared genetic mechanisms with neuropsychiatric disorders using GWAS and functional analyses.

Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores

This paper conducts a GWAS on suicide attempt across psychiatric disorders, identifying genetic loci and showing polygenic risk for major depression predicts suicide attempt in multiple disorders.

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

The paper analyzes rare variants to uncover mutation rate heterogeneity in the human genome, identifying genomic features that influence mutation rates.

Interactions between genetic variation and cellular environment in skeletal muscle gene expression

The paper identifies genetic-environment interactions in skeletal muscle gene expression using allele-specific expression and clinical traits as environmental proxies.

Differential Expression Analysis for RNAseq using Poisson Mixed Models

This paper introduces a Poisson mixed model for differential expression analysis in RNAseq, accounting for over-dispersion and sample non-independence, showing improved power in real data.