Cassandra Nichole Spracklen

PEGASUS defines a community reporting standard for GWAS predicted effector genes: a metadata record, a full locus-by-gene evidence matrix, and a derived author-prioritised gene list.

This study examines how genetic and lifestyle factors together influence the risk of developing type 2 diabetes in the UK Biobank population.

The paper analyzes single-cell transcriptomes of human islet cells across glycemic states to identify gene expression defects in beta cells associated with type 2 diabetes.

This study identifies G3P-ChREBP as a mechanism linking Citrin Deficiency to metabolic dysfunction by activating FGF21 and lipogenesis, affecting food and alcohol choices.

This study investigates causal links between T2D genetic clusters and non-cardiovascular comorbidities, identifying potential drug repurposing opportunities.

This study integrates multi-omics data to identify genetic variants and molecular mechanisms associated with type 2 diabetes and highlights potential drug targets.

This study investigates how human pancreatic islet cells respond to ER and cytokine stress and identifies T2D-associated genetic variants that modulate these responses.

This study performs a multi-ancestry GWAS for adiponectin, identifies 22 loci, and prioritizes target genes using GPScore, revealing novel genes and pathways involved in metabolic regulation.

This paper improves genetic scores for adiposity traits in East Asian populations by using trans-ancestry meta-analysis, increasing variance explained compared to European-derived scores.

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

This study identifies 12,111 SNPs associated with height from 5.4 million individuals, explaining most common SNP-based heritability and showing ancestry-specific prediction accuracy.

This study identifies 277 T2D loci using diverse populations and improves fine-mapping to assess causal genes and mechanisms, enhancing clinical translation.

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

This study identifies 242 genetic loci for glycaemic traits using trans-ancestry meta-analysis, finding 99 novel loci and improved fine-mapping resolution compared to single-ancestry analyses.

This paper identifies 56 new type 2 diabetes loci in 433,540 East Asian individuals through a meta-analysis of GWAS data.

The paper introduces SMUT, a method to test mediation effects of multiple SNPs on phenotypes, showing improved power and identifying known mediators in a real dataset.