Pierre Lindenbaumhttps://www.nature.com/articles/s41588-022-01225-6 "Powerful, scalable and resource-efficient meta-analysis of #rareVariant associations in large whole genome sequencing studies" #wgs #genetics #genomics #bioinformatics #MetaSTAAR performs rare variant meta-analysis at scale and produces results comparable to using pooled data. We further demonstrate that MetaSTAAR is scalable to biobank-scale cohorts through meta-analysis of #TOPMed WGS data and #UKBiobank WES data of ~200,000 samples.
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies - Nature Genetics
MetaSTAAR enables functionally informed rare variant association analysis in biobank-scale cohorts using an efficient, sparse matrix approach for summary statistic storage.