RovHer prioritizes rare coding variants in UK Biobank
RovHer, a heritability-optimized scoring method, identified missense rare variants that explained more of the heritability across 21 traits, according to a paper in Nature Genetics. It integrated 75 variant- and gene-level features across 4,927,334 rare variants and was applied to up to 357,086 UK Biobank European individuals. The top 1% of prioritized variants explained an average of 16.1% of total rare-variant heritability, compared with an average of 1.5% for 7 alternative methods. The predictions generalized in a multi-ancestry replication and identified high-risk carriers across 17 monogenic gene-trait pairs.
RovHer could help identify high-risk carriers in population risk stratification.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].