Allison E. Ashley‐Koch

Human genetics implicates a BACH2-NRF2 axis in fetal hemoglobin activation

This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.

Local ancestry-aware genome-wide meta-analysis uncovers novel genetic loci for sickle cell disease nephropathy

This paper performs a local ancestry-aware GWAS on SCD cohorts to identify novel genetic loci associated with eGFR, uncovering regions linked to inflammation, ECM integrity, and other pathways relevant to SCD nephropathy.

Suicidality phenotypes reflect both shared and distinct genetic factors

This study identifies shared and distinct genetic factors underlying suicidality phenotypes using GWAS and structural equation modelling.

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.

Pathways from Polygenic Risk to Suicidality: Effects of Alcohol Use Disorder and Childhood Adversity

The paper examines how polygenic risk for suicide attempts interacts with alcohol use disorder and childhood adversity to influence suicide attempt risk.

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 Externalizing Spectrum and Suicide Risk: Insights from Genomics and Electronic Health Records in over 500,000 Veterans

This study identifies a genetic link between externalizing traits and suicide risk using genomic data and electronic health records from over 500,000 veterans.

Genomic Analysis of Trichotillomania

This study conducts the first genome-wide association analysis of trichotillomania and finds no significant common variants but detects higher polygenic risk and copy number variants associated with neuropsychiatric disorders.

Comparative mapping of single-cell transcriptomic landscapes in neurodegenerative diseases

This study compares the transcriptomic landscapes of Alzheimer's disease, Dementia with Lewy bodies, and Parkinson's disease using single-nucleus RNA sequencing to identify shared and distinct molecular features.

The contribution of de novo coding mutations to meningomyelocele

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

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.

Genomic Structural Equation Modeling Reveals Latent Phenotypes in the Human Cortex with Distinct Genetic Architecture

The paper uses genomic structural equation modeling to identify latent genetic factors underlying cortical surface area and thickness, finding genetic correlations with psychiatric disorders.

Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height

Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results

This paper introduces the shortest reactional distance (SRD) metric to improve the biological interpretation of metabolite genome-wide association study (mGWAS) results by linking genes to metabolites based on metabolic pathway knowledge.

Validation of human telomere length trans-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as novel human telomere length regulation genes

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

Integrative single-nucleus multi-omics analysis prioritizes candidate cis and trans regulatory networks and their target genes in Alzheimers disease brains

This study uses single-nucleus multi-omics data to identify cis and trans regulatory networks and their target genes in Alzheimer's disease brains.

Structural variation across 138,134 samples in the TOPMed consortium

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

Genetic Substrates of Brain Vulnerability and Resilience in Aging APOE2 Mice

This study investigates how APOE2 alleles affect brain vulnerability and resilience in aging mice, identifying age-related brain atrophy, sex differences, and gene expression changes.

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.

Variation and impact of polygenic hematological traits in monogenic sickle cell disease

The paper evaluates polygenic trait scores for hematological traits in sickle cell disease patients, finding limited predictive power for complications but significant associations for fetal hemoglobin.

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.

Genome-wide association study meta-analysis of suicide attempt identifies twelve genome-wide significant loci and implicates genetic risks for specific health factors

This paper conducts a multi-ancestry GWAS meta-analysis of suicide attempt, identifying 12 genome-wide significant loci and finding shared genetic risks with ADHD, smoking, and risk tolerance.

Digging deeper into GWAS signal using GRIN implicates additional genes contributing to suicidal behavior

This study relaxes GWAS significance thresholds and uses GRIN to identify additional genes linked to suicidal behavior, which replicate across cohorts and show stronger biological connections.

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.

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.

Sex dependent glial-specific changes in the chromatin accessibility landscape in late-onset Alzheimer's disease brains

The paper identifies sex-dependent glial-specific chromatin accessibility changes in late-onset Alzheimer's disease brains using ATAC-seq and links them to LOAD-GWAS regions.

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.

Cell-type specific effects of genetic variation on chromatin accessibility during human neuronal differentiation

The paper identifies cell-type specific effects of genetic variation on chromatin accessibility during human neuronal differentiation and links these to regulatory mechanisms of neuropsychiatric disorder risk variants.

Causal role of L-glutamine in sickle cell disease painful crises: a Mendelian randomization analysis

The paper uses Mendelian randomization to confirm a causal link between L-glutamine levels and reduced painful crises in sickle cell disease, while finding no significant causal relationships for other metabolites.

The genetic architecture of the human cerebral cortex

The paper identifies genetic loci associated with human cortical structure and finds genetic correlations with neuropsychiatric disorders.