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Analysis of institutional authors

Ayuso CAuthor

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May 11, 2025
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Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.

Publicated to:International journal of molecular sciences. 26 (8): - - 2025-04-18 26(8), DOI: 10.3390/ijms26083825

Authors: Rodilla C; Núñez-Moreno G; Benitez Y; Rodríguez de Alba M; Blanco-Kelly F; López-Alcojor A; Fernández-Caballero L; Perea-Romero I; Del Pozo-Valero M; García-García G; Balanzá M; Villaverde C; Zurita O; Jubin C; Fund C; Delepine M; Leduc A; Deleuze JF; Millán JM; Minguez P; Corton M; Ayuso C

Affiliations

Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain. - Author
Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057 Evry, France. - Author
Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain. - Author

Abstract

Advances in whole-genome sequencing (WGS) have significantly enhanced our ability to detect genomic variants underlying inherited diseases. In this study, we performed long-read WGS on 24 patients with inherited retinal dystrophies (IRDs) to validate the utility of nanopore sequencing in detecting genomic variations. We confirmed the presence of all previously detected variants and demonstrated that this approach allows for the precise refinement of structural variants (SVs). Furthermore, we could perform genotype phasing by sequencing only the probands, confirming that the variants were inherited in trans. Moreover, nanopore sequencing enables the detection of complex variants, such as transposon insertions and structural rearrangements. This comprehensive assessment illustrates the power of long-read sequencing in capturing diverse forms of genomic variation and in improving diagnostic accuracy in IRDs.

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Quality index

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-08-05:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 1.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 1 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 1.75.
  • The number of mentions on the social network X (formerly Twitter): 5 (Altmetric).

Leadership analysis of institutional authors

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (Rodilla C) and Last Author (AYUSO GARCIA, MARIA DEL CARMEN TOMASA).