GenomicsbioRxivPreprint
Phenotypes of ultra-rare variant carriers benchmark variant effect scores
Shubhankar Londhe, Eva Holtkamp, George Tsitsiridis…·Julien Gagneur
The paper benchmarks variant effect scores using UK Biobank data on ultra-rare variant carriers, showing coding and splicing scores better predict protein abundance and traits than transcriptional regulation models.
DOI 10.64898/2026.10.01.755962