Kimberly F. McManus

HAPI-RECAP reconstructs parent genomes from full siblings and relatives, achieving high accuracy and enabling phenotypic analyses and pedigree reconstruction.

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%.

Bonsai infers large human pedigrees from genotype data by assembling smaller pedigrees of close relatives, improving accuracy and efficiency through new formulas and methods.

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 TPBWT for fast and robust IBD inference, showing improved speed and accuracy over existing methods, especially in handling phasing errors.

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.

This study analyzes 76 exomes from five Mexican indigenous populations to infer population history and identify genes under positive selection.

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.

The paper analyzes the DARC locus in humans to show strong selection on the FY*O allele associated with malaria resistance, with a selection coefficient of 5% and a TMRCA of 42 kya.

This study uses whole genome sequences from gorillas to infer demographic history and selective sweeps, finding population expansions and contractions and signatures of positive selection in specific biological processes.