SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests.

Abstract excerpt

Several biobanks, including UK Biobank (UKBB), are generating large-scale sequencing data. An existing method, SAIGE-GENE, performs well when testing variants with minor allele frequency (MAF) ≤ 1%, but inflation is observed in variance component set-based tests when restricting to variants with MAF ≤ 0.1% or 0.01%. Here, we propose SAIGE-GENE+ with greatly improved type I error control and computational...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Exome Sequencing
• Share to Gene Frequency