Kathryn Auckland

MitoPerturb-Seq identifies common and gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmy

Nationwide genomic biobank in Mexico unravels demographic history and complex trait architecture from 6,057 individuals

Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension

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.

Targeting hepatitis B vaccine escape using immunogenetics in Bangladeshi infants

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

A novel framework for characterizing genomic haplotype diversity in the human immunoglobulin heavy chain locus

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.

Elevated risk of invasive group A streptococcal disease and host genetic variation in the human leukocyte antigen locus

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.

Population Turnover in Remote Oceania Shortly After Initial Settlement

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.