Euan Angus Ashley

MetaDome now supports GRCh38 alongside GRCh37, adds coordinate lookup, and identifies 52,463 GRCh38 ClinVar missense variants of uncertain significance with uncontradicted pathogenic evidence at homologous Pfam-domain positions.

The paper presents initial findings from the MoTrPAC consortium, showing that acute and chronic exercise induce distinct physiological and molecular responses, with chronic training improving key health metrics.

The paper analyzes multi-omic, multi-tissue molecular responses to acute exercise in sedentary adults, identifying key pathways and exerkines involved in exercise effects.

The paper reclassifies genetic variants in HCM patients using a large registry, finding 10% of variants were reclassified, with most VUS unlikely to be causal.

The paper investigates E-rich domain variants of RBM20, showing they reduce protein abundance and cause splicing defects, but are not rescued by RBM20 overexpression.

The paper develops a multidimensional assay to assess variant effects in MYBPC3, reclassifying variants and uncovering disease mechanisms in hypertrophic cardiomyopathy.

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This paper introduces Proto, a high-level programming language for generative biology, and demonstrates its use in designing and validating biological systems.

METAFORA calls depth-aware, covariate-adjusted methylation outlier regions from PacBio and Nanopore long reads; in 551 rare-disease genomes, outliers tracked structural variants, repeat expansions, and imprinting defects.

This paper develops an in silico framework to evaluate the impact of polygenic risk score (PRS)-guided prognostic enrichment on clinical trial design using genomic and electronic health record data.

This study identifies tissue-specific lncRNA responses to endurance exercise in rats, revealing sex differences and potential therapeutic implications.

The paper identifies tissue-specific transcriptional regulatory programs in rats undergoing endurance exercise training by integrating chromatin accessibility, DNA methylation, and gene expression data.

This study evaluates how polygenic risk scores can optimize screening programs to reduce premature deaths by tailoring screening ages based on genetic risk.

This study assesses TNNI3 variant effects on hiPSC-CM physiology and links these findings to disease severity in cardiomyopathy patients.

The paper maps the functional landscape of KCNQ1 variants to identify pathogenic and benign variants, revealing their impact on arrhythmia risk and ion channel mechanisms.

The paper uses long-read genome sequencing and multi-omics data to identify structural variants associated with aging and neurodegenerative diseases, finding that SVs are more likely to be causal than SNVs.

The paper integrates genomic and structural data to identify variant intolerance regions in cardiac sarcomere genes and links them to disease mechanisms in hypertrophic cardiomyopathy.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

ProVADA adapts proteins to non-native contexts by steering a pretrained generator while preserving function, successfully converting renin and deimmunizing antibodies.

The paper studies a 358-bp micro-eccDNA from the human Titin gene, showing nucleosomes induce a topological switch between intact and denatured states.

The paper integrates long-read sequencing and gene expression to prioritize functional structural variants and tandem repeats in rare disease patients, identifying potential causal variants in a neurodevelopmental disorder.

This paper introduces a local haplotype approximation method to improve variant calling accuracy across long-read sequencing platforms without increasing computational overhead.

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

This paper introduces a method using weighted de Bruijn graphs to polish sequencing reads, improving assembly accuracy by correcting errors in simulated datasets.

This study examines how endurance exercise training affects rat subcutaneous white adipose tissue, revealing sex-specific molecular responses and differences in adiposity and metabolism.

The paper introduces epiTree, a pipeline using tree-based models to detect higher-order epistatic interactions in genomic data, validated on UK Biobank data for red hair and MS prediction.

The paper applies complete long read sequencing to undiagnosed patients, identifying a 16kb intragenic duplication in EHMT1 causing Kleefstra syndrome.

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

This study maps multi-omic mitochondrial changes across 19 tissues in rats after endurance exercise training, identifying tissue-specific adaptations and disease-related hubs.

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.