Adam P. Levine

This paper uses self-supervised learning to analyze histology images and predict spatial RNA expression across 23 human tissues, revealing population variability and its impact on gene expression.

This study identifies a novel genetic association between AHI1 variants and steroid-sensitive nephrotic syndrome in both Sri Lankan and European populations.

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.