G. David Poznik

This study finds that higher polygenic risk scores for breast cancer are associated with longer survival in patients, suggesting a link between genetic predisposition and less aggressive tumors.

This study compares polygenic risk scores for Parkinson's disease across seven ancestries, finding varying predictive accuracy and highlighting the need for ancestry-specific models.

This study identifies genetic correlations between hyposmia and Parkinson's disease, finding a strong causal link from PD to hyposmia but weaker evidence for the reverse.

This study investigates the shared genetic architecture between rhythm and dyslexia using large-scale genome-wide association studies.

MUSSEL improves polygenic risk prediction across populations by integrating GWAS summary statistics and using Bayesian hierarchical modeling with ensemble learning.

This paper conducts a multi-ancestry genome-wide meta-analysis of Parkinson's disease, identifying 78 independent loci and 23 genes associated with PD risk.

The paper introduces CT-SLEB, a method for multi-ancestry polygenic prediction that improves performance in non-European populations using GWAS summary statistics and simulation studies.

The paper uses genetic data to show sex-biased admixture patterns in South Africa due to colonial migration, with European males and Khoe-San females contributing disproportionately to different regions.

This study identifies 49 genetic loci associated with sleep apnoea risk using multi-trait GWAS, with 29 replicated in a large cohort, and finds genetic correlations with several complex traits.

This study conducts a genome-wide association study to identify genetic variants linked to musical beat synchronization, finding high polygenicity with 69 significant loci and heritability estimates of 13%-16%.

The paper identifies sex-differential participation bias in genetic studies by performing GWAS on sex in 3.3 million individuals, finding 158 loci associated with sex and highlighting traits like BMI that may influence participation.

This study identifies genetic loci associated with daytime napping and finds potential causal links between napping and cardiometabolic traits.

This paper introduces Ancestry Composition, a pipeline for ancestry deconvolution that uses over 14,000 reference haplotypes to improve accuracy and scalability.

The paper identifies HLA-B*55:01 as a genetic risk factor for penicillin allergy through genome-wide analysis of electronic health records and imputed HLA data.

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 applies Y-chromosome capture-enrichment to ancient DNA libraries, showing increased recovery of Y-DNA sequences and enabling haplogroup assignment.

yHaplo walks the Y-chromosome tree with an error-tolerant breadth-first search, labelling the 1,244 1000 Genomes males in 20 seconds and matching every gold-standard call.