Laura A. Almasy

Determinants of functional burden pleiotropy and gene dosage responses across human traits

The paper develops FunBurd to analyze gene dosage effects on 43 traits in UK-Biobank, finding pleiotropy and non-monotonic responses linked to genetic constraint and brain-specific mechanisms.

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.

A meta-analysis of chromatin-associated loci provides insights into mechanistic interpretations of trait heritability

This study analyzes chromatin accessibility QTLs (caQTLs) to better understand how genetic variants influence trait heritability through regulatory mechanisms.

Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic aging

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

cellSTAAR: Incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of non-coding regions

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

The overlapping genetic architecture of psychiatric disorders and cortical brain structure

This study identifies shared genetic loci between psychiatric disorders and cortical brain structure using genome-wide association data from over 700,000 individuals.

Characterization of non-coding variants associated with transcription factor binding through ATAC-seq-defined footprint QTLs in liver

The paper identifies 693 SNPs associated with transcription factor binding in liver ATAC-seq data by analyzing footprint quantitative trait loci (fpQTLs).

A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies

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

Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes

The paper identifies a CNV duplication associated with higher cognitive ability and shows gene-dosage effects differ between deletions and duplications across biological processes.

Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles.

This study uses whole genome sequencing to identify 18 novel genetic loci associated with plasma fibrinogen levels, including variants more common in African populations and linked to liver-related traits and disease.

Copy number variants differ in frequency across genetic ancestry groups

The paper examines CNV frequency differences across genetic ancestry groups and finds lower prevalence of deleterious CNVs in non-European ancestry groups.

The copy number variant architecture of psychopathology and cognitive development in the ABCD study

This study identifies copy number variants (CNVs) associated with child psychopathology and cognitive function using data from the ABCD study.

Sleep and Activity Patterns in Autism Spectrum Disorder

The paper identifies sleep and activity patterns associated with autism spectrum disorder using wearable data and machine learning.

Subcortical brain alterations in carriers of genomic copy number variants

This study examines subcortical brain alterations in CNV carriers across multiple neuropsychiatric disorders, finding shared and distinct patterns of structural changes.

Phenome-wide association analysis of substance use disorders in a deeply phenotyped sample

The paper uses polygenic risk scores and phenome-wide association studies to examine pleiotropy in substance use disorders using a deeply phenotyped sample.

Predicting alcohol-related memory problems in older adults: A machine learning study with multi-domain features

This study uses machine learning to predict alcohol-related memory problems in older adults by integrating multi-domain features including brain connectivity, polygenic risk, and lifestyle factors.

Is anxiety a pathway to Alcohol Use Disorders? A phenome-wide association study of the GABRA2 coding variant rs279858

This paper uses PheWAS to investigate the phenotypic effects of GABRA2 variant rs279858, finding associations with anxiety-related and behavioral traits linked to alcohol use disorders.

A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies

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.

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

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.

Recovery of trait heritability from whole genome sequence data

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

Stability of Polygenic Scores Across Discovery Genome-Wide Association Studies

This study evaluates the stability of polygenic scores across different genome-wide association studies, finding low individual-level consistency and highlighting challenges for precision medicine.

Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program

Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

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

Multi-omics integration analysis identifies novel genes for alcoholism with potential link to neurodegenerative diseases

The paper integrates GWAS data with multi-omics datasets to identify novel genes for alcohol use disorder and link them to neurodegenerative diseases.

Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

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

Atlas of functional connectivity relationships across rare and common genetic variants, traits, and psychiatric conditions

The paper examines how rare and common genomic variants affect brain functional connectivity, revealing how polygenicity and pleiotropy influence psychiatric conditions and brain networks.

Effects-sizes of deletions and duplications on autism risk across the genome

The paper estimates the effect sizes of deletions and duplications on autism risk and IQ using statistical models applied to CNV data from multiple cohorts.

Genome wide analysis of gene dosage in 24,092 individuals shows that 10,000 genes modulate cognitive ability

The paper quantifies the effect of copy number variants on cognitive ability using genomic data from 24,092 individuals, finding that 10,000 genes modulate intelligence.

De novo mutations across 1,465 diverse genomes reveal novel mutational insights and reductions in the Amish founder population.

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.

Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree

This study identifies genetic pleiotropy between bipolar disorder and metabolic/endocrine traits in a multigenerational Amish pedigree using imputed WGS and polygenic risk scores.