Sahar V. Mozaffari

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

GWAS of preeclampsia and hypertensive disorders of pregnancy uncovers genes related to cardiometabolic, endothelial and placental function

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

Discovery of genomic loci associated with sleep apnoea risk through multi-trait GWAS analysis with snoring

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.

Genome-wide association study of musical beat synchronization demonstrates high polygenicity

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%.

FinnGen: Unique genetic insights from combining isolated population and national health register data

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

Genetic analyses identify widespread sex-differential participation bias

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.

Genetic determinants of daytime napping and effects on cardiometabolic health

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

Genome-wide study identifies association between HLA-B*55:01 and penicillin allergy

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.

Genome-wide association and multi-omic analyses reveal new mechanisms for Heart Failure

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.

Parent of origin gene expression in a founder population identifies two new imprinted genes at known imprinted regions

The paper identifies two new imprinted genes in a founder population using allele-specific expression and phased genotype data.

Heritability Estimation and Differential Analysis with Generalized Linear Mixed Models in Genomic Sequencing Studies

This paper introduces PQLseq, a method for heritability estimation and differential analysis in genomic sequencing studies, showing it provides unbiased heritability estimates and better power for differential analysis.

Rare non-coding variants are associated with plasma lipid traits in a founder population

The paper identifies rare non-coding variants in a founder population associated with plasma lipid traits using Bayesian methods and functional annotations.

Parent of Origin Effects on Quantitative Phenotypes in a Founder Population

The paper identifies parent of origin effects on 11 quantitative phenotypes in a Hutterite population, showing that these effects are common, clinically relevant, and often missed by traditional GWAS.