Xue et al. (2025) Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field We surveyed dozens of experts across several professions to assess the appropriate skills and knowledge needed for a career in the interdisciplinary field of public health genetics. Focus group discussions underwent thematic
Xue et al. (2025) Risk score roulette: A cautionary tale of polygenic risk score reliability Given the strong interest in using genome-wide association study results to infer individual-level risk of Alzheimer’s disease, we assessed the performance of several polygenic risk score approaches. While each approach was significantly associated with dementia risk with similar performance in
Blue et al. (2025) Multi-ancestry meta-analysis identifies genetic modifiers of age-at-onset of Alzheimer’s disease at known and novel loci We performed a genome-wide association study for age-at-onset of Alzheimer’s disease (AD) in two diverse cohorts. The 16 loci significantly associated with age-at-onset of AD in the meta-analysis include several AD risk loci as well as
Faino et al. (2025) CHP2 modifies chronic Pseudomonas aeruginosa airway infection risk in cystic fibrosis Taking advantage of longitudinal clinical data for nearly 5,000 people with Cystic Fibrosis (CF), we performed a genome-wide association study for time to chronic Pa infection. We identified a common noncoding variant near the gene CHP2 significantly associated with a
Vollger et al. (2025) Synchronized long-read genome, methylome, epigenome, and transcriptome profiling resolve a Mendelian condition Simultaneous profiling of the genome, methylome, epigenome, and transcriptome using single-molecule chromatin fiber sequencing and multiplexed arrays isoform sequencing identifies the genetic and molecular basis of an undiagnosed Mendelian disease case with an X;13-balanced translocation. Our multi-omics approach revealed
Blue et al. (2024) Dual Diagnosis of UQCRFS1-related Mitochondrial Complex III Deficiency and recessive GJA8-related Cataracts We describe the relationship between consanguinity, multi-system disease, and multiple genetic diagnoses of rare disease for a single proband. This report highlights the implementation of both genome sequencing and proteomics to increase diagnostic yield and early diagnosis. We demonstrate
Xue, Blue, Conomos, Fohner (2024) The power of representation: Statistical analysis of diversity in US Alzheimer’s disease genetics data We determined the available array and sequencing data for US studies of Alzheimer’s disease (AD) by reported race and ethnicity, then simulated the statistical power of these datasets to identify risk variants comparable to those found