Gemma Alexandra Figtree

Tandem repeat variation shapes immune cell type-specific gene expression

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

dioscRi enables transferable prediction of clinical outcomes in multi-parameter cytometry data

dioscRi improves transferability of deep learning models for cytometry data by integrating normalization, cell type hierarchies, and clinical outcome prediction.

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

The paper analyzes over 800,000 human genomes to assess penetrance of clinically relevant variants, finding that 95% of pLoF variants in severe diseases have explanations for lack of disease manifestation.

Single-cell genetics identifies cell-type-specific effector genes across complex traits and diseases

The paper uses single-cell eQTL data to identify cell-type-specific effector genes associated with 69 diseases and 31 biomarker traits, revealing distinct immune cell contributions to disease.

Genetic regulation of cell type-specific chromatin accessibility shapes immune function and disease risk

The paper maps chromatin accessibility and genetic variation in immune cells, showing how integrating cell-type-specific data improves disease risk understanding.

Endothelial Colony-Forming Cell Transcriptomic Profiling in CT-defined Coronary Artery Disease from the BioHEART-CT Study Implicate CCBE1 in Mitochondrial Dysfunction-associated Atherosclerosis

This study identifies CCBE1 as a gene associated with mitochondrial dysfunction in atherosclerosis using transcriptomic analysis of endothelial cells from CAD patients.

Combined genomic and phenotypic classification of inherited and acquired genetic disease with long-read sequencing

This paper uses long-read sequencing to simultaneously detect genetic variation and methylation, enabling phenotypic classification of inherited and acquired genetic diseases.

Towards Principled Modeling Of Coronary Artery Calcium Scores With Zero-Inflated Regression

This paper develops zero-inflated regression models to better analyze Coronary Artery Calcium Scores by addressing the high prevalence of zeros in the data.

Construction and optimization of multi-platform precision pathways for precision medicine

The paper develops a framework to construct multi-platform precision diagnostic pathways automatically, optimizing for accuracy and cost-effectiveness in clinical settings.

hRUV: Hierarchical approach to removal of unwanted variation for large-scale metabolomics data

The paper introduces hRUV, a hierarchical method to remove unwanted variation in large-scale metabolomics data, showing improved preservation of biological signals.