ijms-logo

Journal Browser

Journal Browser

Genomic Variation and Epidemiology of Cystic Fibrosis

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 May 2025 | Viewed by 1678

Special Issue Editor

Special Issue Information

Dear Colleagues,

As Guest Editor, I am delighted to personally invite you to submit a paper for our Special Issue on Genomic Variation and Epidemiology of Cystic Fibrosis in the International Journal of Molecular Sciences (Section: Molecular Genetics and Genomics). If accepted, your paper will be read by other investigators, practitioner scholars, and theorists who have addressed various aspects of the diagnosis, assessment, and treatment of infectious diseases, including the epidemiological approaches used to investigate cystic fibrosis. For this Special Issue, we are recruiting colleagues like yourself who will be submitting papers based on original findings, mainly those associated with CFTR genotype, cystic fibrosis epidemiology, and personalized/precision medicine that can be used to manage the disease. However, other types of papers will be considered, such as targeted literature reviews, systematic reviews, meta-analyses, and theoretical papers. 

The aim of the Special Issue is to assemble papers that announce, recruit, and publish new papers on cystic fibrosis and the occurrence of genomic variation and epidemiology that would be of special interest to readers of the International Journal of Molecular Sciences. Thus, papers published in this Special Issue should significantly contribute to the literature focusing on the genomic variation and epidemiology of cystic fibrosis that has affected the entire cystic fibrosis population and caregivers who deserve special attention, especially scientists and healthcare managers.

In this Special Issue, original research articles, reviews, and clinical papers with molecular studies are welcome.

I look forward to receiving your contributions.

Prof. Dr. Fernando Augusto Lima Marson
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • CFTR
  • epidemiology
  • genetics
  • gene expression
  • personalized medicine
  • precision medicine

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:

Research

12 pages, 13697 KiB  
Article
Accurate and Automated Genotyping of the CFTR Poly-T/TG Tract with CFTR-TIPS
by Qiliang Ding, Christopher D. Hofich, Tifani B. Kellogg, Rhonda K. Kuennen, Kaitlin N. Paxton, Sarah M. Thieke, Kandelaria M. Rumilla and Linda Hasadsri
Int. J. Mol. Sci. 2024, 25(15), 8533; https://doi.org/10.3390/ijms25158533 - 5 Aug 2024
Viewed by 1248
Abstract
Cystic fibrosis is caused by biallelic pathogenic variants in the CFTR gene, which contains a polymorphic (TG)mTn sequence (the “poly-T/TG tract”) in intron 9. While T9 and T7 alleles are benign, T5 alleles with longer TG repeats, [...] Read more.
Cystic fibrosis is caused by biallelic pathogenic variants in the CFTR gene, which contains a polymorphic (TG)mTn sequence (the “poly-T/TG tract”) in intron 9. While T9 and T7 alleles are benign, T5 alleles with longer TG repeats, e.g., (TG)12T5 and (TG)13T5, are clinically significant. Thus, professional medical societies currently recommend reporting the TG repeat size when T5 is detected. Sanger sequencing is a cost-effective method of genotyping the (TG)mTn tract; however, its polymorphic length substantially complicates data analysis. We developed CFTR-TIPS, a freely available web-based software tool that infers the (TG)mTn genotype from Sanger sequencing data. This tool detects the (TG)mTn tract in the chromatograms, quantifies goodness of fit with expected patterns, and visualizes the results in a graphical user interface. It is broadly compatible with any Sanger chromatogram that contains the (TG)mTn tract ± 15 bp. We evaluated CFTR-TIPS using 835 clinical samples previously analyzed in a CLIA-certified, CAP-accredited laboratory. When operated fully automatically, CFTR-TIPS achieved 99.8% concordance with our clinically validated manual workflow, while generally taking less than 10 s per sample. There were two discordant samples: one due to a co-occurring heterozygous duplication that confounded the tool and the other due to incomplete (TG)mTn tract detection in the reverse chromatogram. No clinically significant misclassifications were observed. CFTR-TIPS is a free, accurate, and rapid tool for CFTR (TG)mTn tract genotyping using cost-effective Sanger sequencing. This tool is suitable both for automated use and as an aid to manual review to enhance accuracy and reduce analysis time. Full article
(This article belongs to the Special Issue Genomic Variation and Epidemiology of Cystic Fibrosis)
Show Figures

Figure 1

Back to TopTop