<p>Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies</p>

Ionut Florin	 Iancu; Irene Perea-Romero; Gonzalo Nuñez-Moreno; Lorena de la Fuente; Raquel Romero; Almudena Avila-Fernandez; Maria Jose Trujillo-Tiebas; Rosa Riveiro-Alvarez; Berta Almoguera; Inmaculada Martin-Merida; Marta del Pozo-Valero; Alejandra Damian-Verde; Marta Corton; Carmen Ayuso; Pablo Minguez

doi:10.7490/f1000research.1119194.1

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Iancu IF, Perea-Romero I, Nuñez-Moreno G et al. Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies [version 1; not peer reviewed]. F1000Research 2022, 11:1307 (poster) (https://doi.org/10.7490/f1000research.1119194.1)

NOTE: it is important to ensure the information in square brackets after the title is included in this citation.

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 Nuñez-Moreno, Lorena de la Fuente, Raquel Romero, Almudena Avila-Fernandez, Maria Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Berta Almoguera, Inmaculada Martin-Merida, Marta del Pozo-Valero, Alejandra Damian-Verde, Marta Corton, Carmen Ayuso, Pablo Minguez¹

Published 15 Nov 2022 (https://doi.org/10.7490/f1000research.1119194.1)

Author Affiliations

¹ IIS-Fundacion Jimenez Diaz-Universidad Autonoma, Spain

Copyright © 2022 Iancu IF et al. This is an open access work distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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CITE

Published 15 Nov 2022

Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies
[version 1; not peer reviewed]

Author Affiliations

¹ IIS-Fundacion Jimenez Diaz-Universidad Autonoma, Spain

Presented at

European Conference on Computational Biology (ECCB) 2022

Abstract

Competing Interests

No competing interests were disclosed

Keywords

Bioinformatics, Genomics, Rare diseases, Inherited retina dystrophies, next generation sequencing, prioritization

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