Our work on mosaic chromosomal alterations in the UK Biobank N=150K interim release has been published in Nature! This study used long-range haplotype phasing information to detect mosaicism in blood at very low clonal fractions (down to ~1%), producing an atlas of 8,342 mosaic events. The statistical power of this data set revealed several rare inherited variants that strongly influence clonal expansions involving nearby chromosomal alterations and also refined the link between mosaicism and future blood cancers. [... Read more about UK Biobank clonal hematopoiesis paper published in Nature
Po-Ru Loh will be presenting work on mosaic CNV detection using long-range phasing at the Broad Institute MIA Seminar on Wed 2/21 (with Giulio Genovese), the MIT Bioinformatics Seminar on Wed 2/21, and the UCLA Computational Genomics Winter Institute on Mon 2/26.
Biobank-based genome-wide association studies are enabling exciting insights in complex trait genetics, but much uncertainty remains over best practices for optimizing statistical power and computational efficiency in GWAS while controlling confounders. Here, we introduce a much faster version of our BOLT-LMM Bayesian mixed model association method --- capable of running analyses of the full UK Biobank cohort in a few days on a single compute node --- and show that it produces highly powered, robust test statistics when run on all 459K European samples (retaining related individuals). When... Read more about New preprint (Loh et al.): Mixed model association for biobank-scale data sets