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Next Generation Sequencing in Human Diseases

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

Deadline for manuscript submissions: 20 August 2026 | Viewed by 2180

Special Issue Editor


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Guest Editor
Immunology Service, Virgen de la Arrixaca University Clinical Hospital (HCUVA), Biomedical Research Institute of Murcia Pascual Parrilla (IMIB), 30120 Murcia, Spain
Interests: transplant lmmunology; immunology; genomics; transcriptomics; vaccines
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Special Issue Information

Dear Colleagues,

Next-generation sequencing (NGS) is rapidly evolving, providing new insights into various fields. Recent advancements have focused on faster, more accurate sequencing, reduced costs, and improved data analysis. NGS enables precise genetic mutation detection, targeted therapies, precision medicine approaches, and enhanced diagnostic methods. Moreover, NGS is revolutionizing fields like single-cell transcriptomics, metagenomics, and forensic DNA analysis, among others. 

The scope of this Special Issue includes the following: precision medicine, cancer research, genetic diagnostics, pharmacogenetic markers for personalized treatments, single-cell transcriptomics, metagenomics, forensic DNA analysis, transplant monitoring, cell-free DNA, inflammatory disease studies, epigenomic factors, DNA degradation analysis, ancient DNA, and new allele and variant discovery.  

I look forward to receiving your contributions.

Prof. Dr. Manuel Muro
Guest Editor

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Keywords

  • NGS
  • single-cell analysis
  • metagenomics
  • forensic DNA analysis
  • precision medicine
  • genetic diagnostics
  • transplant monitoring
  • cell-free DNA
  • new allele and variant discovery

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Published Papers (1 paper)

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Research

18 pages, 1419 KB  
Article
Methodological Assessment of High-Throughput Sequencing Platforms: Illumina vs. MGI in Clinical-Grade CFTR Genotyping
by Marianna Beggio, Edoardo Peroni, Eliana Greco, Giulia Favretto, Dario Degiorgio, Antonio Rosato and Mosè Favarato
Int. J. Mol. Sci. 2025, 26(23), 11701; https://doi.org/10.3390/ijms262311701 - 3 Dec 2025
Cited by 1 | Viewed by 1946
Abstract
The growing demand for precision diagnostics in cystic fibrosis and other genetic disorders, such as cancers, is driving the need for sequencing platforms that combine analytical robustness, scalability, and cost-efficiency. In this study, we performed a direct comparison between two leading Next-Generation Sequencing [...] Read more.
The growing demand for precision diagnostics in cystic fibrosis and other genetic disorders, such as cancers, is driving the need for sequencing platforms that combine analytical robustness, scalability, and cost-efficiency. In this study, we performed a direct comparison between two leading Next-Generation Sequencing (NGS) platforms, MiSeq (Illumina, CA, USA) and DNBSEQ-G99RS (MGI Tech Co., Shenzhen, China), using a CE-IVD-certified CFTR panel (Devyser AB), selected for its complexity and variant spectrum, including SNVs, CNVs, and intronic polymorphisms. A total of 47 genomic DNA samples from routine clinical activity were analyzed on both platforms. Illumina sequencing covered all CFTR variants using standard workflows, while MGI data were generated from residual diagnostic DNA, with informed consent. Sequencing data were processed using Amplicon Suite v3.7.0 for variant calling, annotation, and ACMG classification. Quality control metrics and platform-specific parameters were also evaluated. Both platforms demonstrated complete concordance in variant detection, including SNVs, CNVs, and complex alleles (e.g., Poly-T/TG). Illumina exhibited slightly superior basecalling quality and allelic frequency uniformity, while MGI achieved higher sequencing depth (mean ~2793×) and demultiplexing efficiency. No false positives, false negatives, or discordant HGVS annotations were observed. The use of full-gene CFTR sequencing enabled granular and technically rigorous cross-platform validation. These findings confirm the analytical equivalence of Illumina and MGI for diagnostic genotyping. Moreover, MGI’s greater data output and flow cell capacity may offer tangible advantages in high-throughput settings, including somatic applications such as liquid biopsy and molecular oncology workflows. Full article
(This article belongs to the Special Issue Next Generation Sequencing in Human Diseases)
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