Kathryn Auckland

This paper classifies PAH-related genes based on evidence strength using a semi-quantitative scoring system, identifying twelve genes with definitive evidence and recommending their inclusion in genetic testing panels.

The paper identifies HLA variants associated with HBV vaccine response in Bangladeshi infants and links them to vaccine escape mechanisms.

The paper introduces a framework combining long-read sequencing and a new tool to fully characterize haplotype diversity in the human immunoglobulin heavy chain locus, demonstrating high accuracy and scalability.

The paper identifies an association between the HLA-DQA1*01:03 allele and increased risk of invasive group A streptococcal disease using case-control studies and HLA imputation.

The paper uses ancient DNA analysis to show that Papuan ancestry arrived in Vanuatu around 2400 BP, suggesting multiple waves of migration from Near Oceania.