Britt I. Drögemöller

A computational model for quantifying instability of tandem repeats across the genome

The paper introduces a computational model to quantify tandem repeat instability using long-read sequencing data and applies it to identify unstable alleles in 256 HPRC cell lines.

Short tandem repeats significantly contribute to the genetic architecture of metabolic and sensory age-related hearing loss phenotypes

The paper investigates the contribution of short tandem repeats (STRs) to age-related hearing loss phenotypes, finding they explain some missing heritability and identify risk associations.

Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults from the CLSA

The paper identifies distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults using integrated human and mouse data.

Identifying fundamental properties of neuromuscular disorder genes through genomic feature analysis

The paper identifies genomic features distinguishing neuromuscular disorder genes from other genes using machine learning and statistical analysis.

Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies

This study identifies potential adverse effects of knocking down polyQ disorder genes using genomic data and highlights risks for drug targeting.

Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypes

This study identifies distinct genes and pathways for sensory and metabolic hearing loss using large-scale audiometric phenotyping and sex-stratified analyses.

Bitter taste genetics and oral health in Canadian Longitudinal Study on Aging

This study examines the link between bitter taste receptor gene variants and oral health outcomes in the CLSA cohort, finding associations with sore jaw muscles and suggesting genetic screening for TMD risk.

The extent and impact of variation in ADME genes in sub-Saharan African populations

This study characterizes ADME gene variation in sub-Saharan African populations, identifying novel variants and highlighting the need for tailored pharmacogenomic approaches.

Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease

This study identifies a genetic variant that reduces interruption between CAG and CCG repeats in the HTT gene, leading to earlier onset of Huntington disease and increased somatic instability.