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EDITORIAL article

Front. Genet.
Sec. Human and Medical Genomics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1494860
This article is part of the Research Topic The clinical utility of Long Read Sequencing (LRS) to improve diagnostic yield and uncover biological mechanisms in rare disease View all 5 articles

Editorial: The clinical utility of Long Read Sequencing (LRS) to improve diagnostic yield and uncover biological mechanisms in rare disease

Provisionally accepted
Lidia Larizza Lidia Larizza 1*Christopher M. Watson Christopher M. Watson 2Madelyn A. Gillentine Madelyn A. Gillentine 3*Palma Finelli Palma Finelli 4
  • 1 Research Lab of Medical Cytogenetics and Molecular Genetics, Italian Auxological Institute (IRCCS), Milan, Italy
  • 2 University of Leeds, Leeds, England, United Kingdom
  • 3 Department of Laboratories, Seattle Children's Hospital, Seattle, California, United States
  • 4 University of Milan, Milan, Lombardy, Italy

The final, formatted version of the article will be published soon.

    Keywords: Lon-read sequencing, Genetic diseases, Structural variants, chromothripsis, Tandem repeat-related diseases, Transcriptomics, epigenetic modifications

    Received: 11 Sep 2024; Accepted: 19 Sep 2024.

    Copyright: © 2024 Larizza, Watson, Gillentine and Finelli. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Lidia Larizza, Research Lab of Medical Cytogenetics and Molecular Genetics, Italian Auxological Institute (IRCCS), Milan, Italy
    Madelyn A. Gillentine, Department of Laboratories, Seattle Children's Hospital, Seattle, 98105, California, United States

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.