Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank
Genetic discovery from the multitude of phenotypes extractable from routine healthcare data
can transform understanding of the human phenome and accelerate progress toward …
can transform understanding of the human phenome and accelerate progress toward …
Identifying cross-disease components of genetic risk across hospital data in the UK Biobank
Genetic risk factors frequently affect multiple common human diseases, providing insight into
shared pathophysiological pathways and opportunities for therapeutic development …
shared pathophysiological pathways and opportunities for therapeutic development …
Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank
M Garg, M Karpinski, D Matelska, L Middleton… - Nature Genetics, 2024 - nature.com
The emergence of biobank-level datasets offers new opportunities to discover novel
biomarkers and develop predictive algorithms for human disease. Here, we present an …
biomarkers and develop predictive algorithms for human disease. Here, we present an …
Genetic feature engineering enables characterisation of shared risk factors in immune-mediated diseases
Background Genome-wide association studies (GWAS) have identified pervasive sharing of
genetic architectures across multiple immune-mediated diseases (IMD). By learning the …
genetic architectures across multiple immune-mediated diseases (IMD). By learning the …
Harnessing the information contained within genome-wide association studies to improve individual prediction of complex disease risk
The current paradigm within genetic diagnostics is to test individuals only at loci known to
affect risk of complex disease—yet the technology exists to genotype an individual at …
affect risk of complex disease—yet the technology exists to genotype an individual at …
Assessing digital phenotyping to enhance genetic studies of human diseases
Population-scale biobanks that combine genetic data and high-dimensional phenotyping for
a large number of participants provide an exciting opportunity to perform genome-wide …
a large number of participants provide an exciting opportunity to perform genome-wide …
A cross-population atlas of genetic associations for 220 human phenotypes
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …
populations and scope of phenotypes. To expand an atlas of genetic associations in non …
Age-dependent topic modeling of comorbidities in UK Biobank identifies disease subtypes with differential genetic risk
The analysis of longitudinal data from electronic health records (EHRs) has the potential to
improve clinical diagnoses and enable personalized medicine, motivating efforts to identify …
improve clinical diagnoses and enable personalized medicine, motivating efforts to identify …
HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases
The human leukocyte antigen (HLA) region on chromosome 6 is strongly associated with
many immune-mediated and infection-related diseases. Due to its highly polymorphic nature …
many immune-mediated and infection-related diseases. Due to its highly polymorphic nature …
Topic modeling identifies novel genetic loci associated with multimorbidities in UK Biobank
Many diseases show patterns of co-occurrence, possibly driven by systemic dysregulation of
underlying processes affecting multiple traits. We have developed a method (treeLFA) for …
underlying processes affecting multiple traits. We have developed a method (treeLFA) for …