AI Image-Omics for Genetic Discovery

Genetic architecture of MRI-derived cervical spinal cord morphology reveals sensory-motor axis and systemic disease associations

The spinal cord is critical to motor, sensory, autonomic function, and increasingly implicated in neurological disease and human health, yet its genetic architecture remains…

Identification of novel vertebral development factors through UK Biobank candidate gene search and body imaging analysis

Imaging-genetics

UK Biobank

Numerical variations and transitional anatomy in the human vertebral column represent a significant yet understudied aspect of skeletal development with potential effects on…

Statistical Genetics, Population Genomics (Biobank) & Translational Research

Haemoglobin thresholds to define anaemia from age 6 months to 65 years estimates from international data sources

Haemoglobin thresholds

WHO

Population Genetics

Detection of anaemia is crucial for clinical medicine and public health. Current WHO anaemia definitions are based on statistical thresholds (fifth centiles) set more than…

The E3-ome gene-centric compendium reveals the human E3 ligase landscape

E3 ubiquitin ligase

Biobank

Gene/variant-phenotype associations

To define and systematically characterize the human E3 ubiquitin ligase (E3) landscape, we generated the E3-ome, a compendium of E3s encoded by the human genome. The E3-ome…

Population-level genome-wide STR discovery and validation for population structure and genetic diversity assessment of Plasmodium species

Plasmodium

Short Tandem Repeats

Population Genetics

Short tandem repeats (STRs) are highly informative genetic markers that have been used extensively in population genetics analysis. They are an important source of genetic…

HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement

Age-related macular degeneration

GWAS

Age-related macular degeneration (AMD) is a multifactorial retinal disease with a large genetic risk contribution. Reticular pseudodrusen (RPD) is a sub-phenotype of AMD…

Neurodegeneration (Parkinson’s)

Peripheral immune cell abundance differences link blood mitochondrial DNA copy number and Parkinson’s disease

Parkinson’s disease

Mitochondrial DNA copy number

UK Biobank

Mitochondrial dysfunction plays an important role in Parkinson’s disease (PD), with mitochondrial DNA copy number (mtDNA-CN) emerging as a potential marker for mitochondrial…

Software Development & Interactive Research Platforms

GeneSetPheno a web application for the integration, summary, and visualization of gene and variant–phenotype associations across gene sets

Graphical interface application

Gene/variant-phenotype associations

Biobank

GeneSetPheno is a user-friendly graphical interface that integrates, summarizes, and visualizes gene and variant-phenotype associations across genomic resources. It allows…

AmpSeqR an R package for amplicon deep sequencing data analysis

R package

Amplicon sequencing (AmpSeq) is a methodology that targets specific genomic regions of interest for polymerase chain reaction (PCR) amplification so that they can be…

PhageGE an interactive web platform for exploratory analysis and visualization of bacteriophage genomes