Steven G. Buyske

HAUDI improves polygenic score construction for admixed populations by efficiently extending the GAUDI method to multi-way admixture with faster computation and better performance.

This study identifies novel genetic signals associated with severe obesity through GWAS and shows strong genetic overlap with BMI, highlighting shared comorbidities and lifestyle interactions.

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

The paper extends a latent trait modeling method to handle missing data across datasets without requiring overlapping measurement instruments, using matrix completion and evaluates its reliability through simulation.

This study identifies shared genetic risk factors for ASD and ADHD using whole genome sequencing data from families with co-occurring disorders.

FAVOR provides an online resource and tool for functional annotation of variants from whole genome sequencing studies to aid in disease gene prioritization.

GAUDI improves polygenic risk prediction in admixed populations by modeling ancestry-specific and shared effects, outperforming existing methods in simulations and real data.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

This paper performs a large-scale TWAS of blood cell phenotypes, identifies 239 gene-trait associations, and develops an R Shiny app to visualize TWAS results.

This study shows that mice lacking the gastrin-releasing peptide gene exhibit enhanced fear conditioning and impaired extinction, with reduced dopamine-related gene transcription in the basolateral amygdala during stress-enhanced fear learning.

This study uses TOPMed whole genome sequences to improve imputation quality and detect rare variant associations in admixed African and Hispanic/Latino populations, identifying two novel associations with hematological traits.

The paper maps and characterizes structural variants in 17,795 human genomes, revealing their frequency, impact, and relationship to gene dosage and regulatory elements.

The paper conducts a GWAS in non-European populations, identifies new genetic loci, and highlights the importance of diverse cohorts for understanding complex traits.