Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies
Ionut-Florin Iancu, Irene Perea‐Romero, Gonzalo Núñez‐Moreno, Lorena de la Fuente, Raquel Romero, Almudena Ávila‐Fernández, María José Trujillo-Tiebas, Rosa Riveiro-Álvarez, Berta Almoguera, Inmaculada Martín-Mérida, Marta Del Pozo‐Valero, Alejandra Damián, Marta Cortón, Carmen Ayuso, Pablo Mínguez
The paper builds a cohort-specific allelic frequency database to prioritize variants and genes in non-solved inherited retinal dystrophies, identifying 8 potential causative variants and 18 genes for further study.
International Journal of Molecular Sciences · Jul 29, 2022Peer-reviewedGenetic & Genomic Medicine