Paul I. W. de Bakker

This paper provides a statistical genetics guide for imputing HLA alleles from genotype data and offers best practices for association testing to identify HLA variants driving complex diseases.

This study identifies 15 common and 9 low-frequency protein-coding variants associated with body fat distribution, implicating novel genes related to lipid homeostasis and type 2 diabetes.

The paper assesses if genetic risk for atrial fibrillation explains cardioembolic stroke risk using genome-wide data from the Stroke Genetics Network.

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

The paper identifies low-frequency coding variants contributing to multiple sclerosis risk using a large case-control study.

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

This paper reviews computational pan-genomics, discussing its status, potential, and challenges across multiple biological disciplines.