Genetic & Genomic MedicinemedRxivPreprint
The phenomic landscape of rare gain- and loss-of-function variation
Meltem Ece Kars, David Stein, Yiming Wu…·Yuval Itan
This study examines rare gain- and loss-of-function variants across 18,214 genes using whole-exome sequencing and electronic health records to identify ancestry-specific and shared gene-variant associations with various traits.
DOI 10.64898/2026.11.11.26367788