Genetic & Genomic MedicineInternational Journal of Molecular SciencesPeer-reviewed
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…·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.
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