Adam Auton

This study identifies 49 genetic signals associated with varicose veins through a large GWAS and replication, highlighting potential therapeutic targets and biological pathways.

LDpred-funct adds baseline-LD functional priors to polygenic scores: average prediction R2 0.144 across 21 UK Biobank traits, a 4.6% relative gain over SBayesR.

This study identifies one known and two novel genetic variants associated with heart failure through GWAS and multi-omic analyses, revealing potential causal mechanisms and shared heritability with musculoskeletal traits.

The paper characterizes the prevalence and health consequences of uniparental disomy in four million individuals, identifying 675 cases and linking UPD of chromosome 22 to autism.

This study identifies two genetic loci, GDF5 and COL27A1, associated with knee pain through a genome-wide association analysis in the UK Biobank and replication in other cohorts.

This study conducts GWAS on impulsive personality traits and drug experimentation in 22,861 adults, identifying genetic associations and correlations with psychiatric disorders.

GWAS in over one million individuals identify 611 loci across risk tolerance and risky behaviors, revealing shared genetic architecture and implicating glutamatergic and GABAergic neurotransmission.

The paper identifies genetic determinants of mosaic Y chromosome loss in blood and links it to genomic instability and non-haematological cancer risk.

MAD-seq detects low-level mosaic chromosomal aneuploidy using a new sequencing assay and analysis method, revealing previously unrecognized aneuploidy in public datasets.

This study shows common genetic variants significantly contribute to migraine family clustering, with higher burden in familial cases compared to population-based cases.

This study conducts a GWAS on depression phenotypes in UK Biobank, identifying genetic variants enriched in excitatory synaptic pathways.

This study investigates genetic mechanisms underlying sex bias in ADHD prevalence using genome-wide data and finds no mean polygenic burden difference across sexes but increased risk in female siblings and comorbid conditions.

This study replicates and extends findings of CADM2 and MSRA gene associations with personality traits using data from 23andMe.

The paper quantifies false negative rates in NGS data and introduces a tool to assess them, showing significant FN rates even in high-coverage datasets.

The paper estimates the human mutation rate using autozygous segments from 3,222 British-Pakistani individuals, finding a lower mutation rate than previous estimates and population-specific mutational patterns.

This study identifies epigenetic dysregulation in ectodermal cells of individuals with ASD born to older mothers, suggesting a potential role for epigenetic changes in ASD pathogenesis.