Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioriti...
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies
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Full title
Author / Creator
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 and Minguez, Pablo
Publisher
Basel: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Basel: MDPI AG
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Scope and Contents
Contents
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)....
Alternative Titles
Full title
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9368980
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9368980
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms23158431
