From the lab
Articles
Here we try to go beyond the abstract, giving our insights into the intuitions, methods, and implications behind our papers, mostly for a non-specialist audience.
Large-scale datasets and advanced computational methods reveal new insights into DNA repeat sequences
Certain repeat sequences in our DNA actually expand and contract as we age, driving serious diseases. A recent study uses massive biobanks and advanced computational methods to map where and why these genomic changes occur.
Phasing Singletons: Pushing the Limits of Statistical Haplotype Estimation
Population-based phasing methods have long struggled with singleton variants, where limited sharing of haplotype information makes accurate phase inference very difficult. SHAPEIT5 addresses this by leveraging the local haplotype context rather than relying solely on allele sharing.
Scaling Imputation with a 150,000-Sample UK Biobank Reference Panel Using GLIMPSE2
The UK Biobank's WGS release created an unusually large reference panel — large enough to strain conventional imputation pipelines. Here's how GLIMPSE2 was redesigned to handle it efficiently.