Article
Long-read transcriptomics of a diverse human cohort reveals ancestry bias in gene annotation.
Nature communications - 3 Dec 2025
Clavell-Revelles Pau, Reese Fairlie, Carbonell-Sala Sílvia, Degalez Fabien, Arnan Carme, Oliveros Winona, Palumbo Emilio, Perteghella Tamara, Guigó Roderic, Melé Marta
Abstract excerpt
Accurate gene annotations are fundamental for interpreting genetic variation, cellular function, and disease mechanisms. However, current human gene annotations are largely derived from transcriptomic data of individuals with European ancestry, leaving gaps of annotation that remain uncharacterized. Here, we generate over 800 million full-length reads with long-read RNA-seq in 43 lymphoblastoid cell line samples...
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