Author

R. Bowler

3 papers indexed here

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Open access Sep 2026

The Alpha-1 Antitrypsin Z-allele associates with sarcopenia in the UK Biobank

Background. Sarcopenia is common in chronic obstructive pulmonary disease (COPD) and contributes to adverse outcomes. Alpha-1 antitrypsin deficiency (AATD) is the most common genetic cause of COPD, but its impact on skeletal muscle remains to be determined. Methods. We performed a retrospective analysis of 487,207 part...

A. Attaway, K. Serban, S. Dutta et al. · medRxiv · 0 citations

Open access Jul 2026

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed.

This work fine-mapped UK Biobank-derived genome-wide association study (GWAS) signals from 164 traits and identified e/sQTL colocalizations for 10,611 GWAS signals, including 7096 that colocalize with secondary e/sQTLs.

Peter Orchard, T. Blackwell, L. Kachuri et al. · Science · 0 citations

Open access Aug 2026

MT-LLE: Multi-task locally linear embedding for interpretable disease modeling from longitudinal omics data

Manifold learning is recast as multi-task learning: MT-LLE jointly optimizes five objectives: geometric reconstruction, supervised organization by clinical stage, embedding and phenotype forecasting, and clustering, which supports complementary analyses that surface structure invisible to standard staging.

S. Hussein, I. Konigsberg, K. Kechris et al. · bioRxiv · 0 citations