{rfName}
Lo

Indexed in

License and use

Icono OpenAccess

Citations

Altmetrics

Grant support

Limited Funding was provided by BGI Genomics UK Co. Ltd.

Analysis of institutional authors

Pintos, IlduaraAuthorDe Mendoza, CarmenAuthor

Share

March 12, 2025
Publications
>
Article
Sí

Low-coverage whole genome sequencing for a highly selective cohort of severe COVID-19 patients

Publicated to:Gigabyte (Hong Kong, China). 2024 127- - 2024-06-20 2024(), DOI: 10.46471/gigabyte.127

Authors: Santos, Renato; Moreno-Torres, Victor; Pintos, Ilduara; Corral, Octavio; de Mendoza, Carmen; Soriano, Vicente; Corpas, Manuel

Affiliations

Imperial Coll London, Natl Heart & Lung Inst, London, England - Author
Puerta de Hierro Univ Hosp & Res Inst, Madrid, Spain - Author
Univ Int La Rioja UNIR, Hlth Sci Sch & Med Ctr, Madrid, Spain - Author
Univ Westminster, Sch Life Sci, London, England - Author

Abstract

Despite the advances in genetic marker identification associated with severe COVID-19, the full genetic characterisation of the disease remains elusive. This study explores imputation in low-coverage whole genome sequencing for a severe COVID-19 patient cohort. We generated a dataset of 79 imputed variant call format files using the GLIMPSE1 tool, each containing an average of 9.5 million single nucleotide variants. Validation revealed a high imputation accuracy (squared Pearson correlation approximate to 0.97) across sequencing platforms, showcasing GLIMPSE1's ability to confidently impute variants with minor allele frequencies as low as 2% in individuals with Spanish ancestry. We carried out a comprehensive analysis of the patient cohort, examining hospitalisation and intensive care utilisation, sex and age-based differences, and clinical phenotypes using a standardised set of medical terms developed to characterise severe COVID-19 symptoms. The methods and findings presented here can be leveraged for future genomic projects to gain vital insights into health challenges like COVID-19.

Keywords

BioinformaticsGenetics and genomicsPersonalized medicin

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Gigabyte (Hong Kong, China) due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2024 there are still no calculated indicators, but in 2023, it was in position , thus managing to position itself as a Q2 (Segundo Cuartil), in the category . Notably, the journal is positioned en el Cuartil Q3 for the agency WoS (JCR) in the category Multidisciplinary Sciences.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2025-08-02:

  • Open Alex: 1

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 2025-08-02:

  • 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: 3.
  • 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: 3 (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: 2.75.
  • The number of mentions on the social network Facebook: 2 (Altmetric).
  • The number of mentions on the social network X (formerly Twitter): 4 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: United Kingdom.