Karatuğ Ozan Bircan

The GWAS Catalog now holds 625,113 curated SNP-trait associations from 6,921 publications plus >85K summary statistics datasets, with a new GWAS-SSF submission standard and GRCh38 harmonisation.

Orchestra improves local ancestry inference, revealing admixture patterns in Latin Americans, Ashkenazi Jews, and selection signals in British populations.

This study benchmarks phasing and imputation software using three datasets, finding Beagle 5.2 most accurate for common markers and IMPUTE5 for low-frequency markers, while also creating an automated pipeline for customized chip design.