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Article

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

International journal of molecular sciences - 29 Jul 2022

Iancu Ionut-Florin, Perea-Romero Irene, Núñez-Moreno Gonzalo, de la Fuente Lorena, Romero Raquel, Ávila-Fernandez Almudena, Trujillo-Tiebas María José, Riveiro-Álvarez Rosa, Almoguera Berta, Martín-Mérida Inmaculada, Del Pozo-Valero Marta, Damián-Verde Alejandra, Cortón Marta, Ayuso Carmen, Minguez Pablo

Abstract excerpt

The introduction of NGS in genetic diagnosis has increased the repertoire of variants and genes involved and the amount of genomic information produced. We built an allelic-frequency (AF) database for a heterogeneous cohort of genetic diseases to explore the aggregated genomic information and boost diagnosis in inherited retinal dystrophies (IRD). We retrospectively selected 5683 index-cases with clinical exome...

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PMID: 35955564
DOI: 10.3390/ijms23158431
PMCID: PMC9368980

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