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Genomics of Human Disease

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: 30 June 2025 | Viewed by 922

Special Issue Editor


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Guest Editor
Department of Mathematical Data Science, College of Science and Convergence Technology, Hanyang University, 55 Hanyang-daehak-ro, Sangnok-gu, Ansan 15588, Republic of Korea
Interests: bioinformatics and biostatistics

Special Issue Information

Dear Colleagues,

This Special Issue, "Genomics of Human Disease", will advance our understanding of the genetic and genomic mechanisms underlying complex human diseases. We aim to showcase cutting-edge research across diverse methodologies, including genome-wide association studies (GWASs), next-generation sequencing (NGS), epigenomic profiling, single-cell omics, and functional genomics. This Special Issue will emphasize translational applications to identify therapeutic targets, improve diagnostic tools, and develop personalized treatment strategies.

Key Areas of Focus:

Genetic and epigenetic drivers of neurodegenerative, metabolic, cardiovascular, and immune-related disorders.Population genomics and genetic epidemiology to uncover disease susceptibility across diverse ancestries.Novel technologies for dissecting disease mechanisms.Precision medicine approaches, including pharmacogenomics and gene therapy development.Multi-omics integration to resolve genotype-phenotype relationships and biomarker discovery.

Submission Types:

We welcome original research articles, systematic reviews/meta-analyses, methodological advances, and perspective pieces that address unresolved challenges in disease genomics. Case reports with novel mechanistic insights or clinical implications are also encouraged. This collection seeks to bridge basic research and clinical applications, fostering collaboration among geneticists, clinicians, and bioinformaticians to accelerate breakthroughs in human health.

Dr. Sungkyoung Choi
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.

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Keywords

  • genome-wide association study (GWAS)
  • next-generation sequencing (NGS)
  • multi-omics analysis
  • epidemiology data analysis
  • precision medicine approaches
  • disease prediction analysis

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Published Papers (1 paper)

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Research

14 pages, 1044 KiB  
Article
Characterization of HLA-A/HLA-B/HLA-C/HLA-DRB1 Haplotypes in Romanian Stem Cell Donors Through High-Resolution Next-Generation Sequencing
by Andreea Mirela Caragea, Radu-Ioan Ursu, Laurențiu Camil Bohîlțea, Paul Iordache, Alexandra-Elena Constantinescu and Ileana Constantinescu
Int. J. Mol. Sci. 2025, 26(11), 5250; https://doi.org/10.3390/ijms26115250 - 29 May 2025
Viewed by 791
Abstract
Human Leukocyte Antigen (HLA) genes are remarkable for their structural complexity and polymorphism. Located on chromosome 6 within the Major Histocompatibility Complex (MHC), these genes exhibit significant frequency variations across human populations and play a crucial role in immune responses, disease susceptibility, and [...] Read more.
Human Leukocyte Antigen (HLA) genes are remarkable for their structural complexity and polymorphism. Located on chromosome 6 within the Major Histocompatibility Complex (MHC), these genes exhibit significant frequency variations across human populations and play a crucial role in immune responses, disease susceptibility, and transplant compatibility. This study aimed to assess the genetic profiles and HLA-A/HLA-B/HLA-C/HLA-DRB1 haplotype frequencies in a Romanian cohort. Whole venous blood samples were collected from 405 healthy, unrelated Romanian volunteers. Using next-generation sequencing (NGS), the study population was genotyped for HLA class I (HLA-A, HLA-B, and HLA-C) and class II (HLA-DRB1) loci. Haplotype frequencies were estimated using the expectation-maximization algorithm, addressing phase and allelic ambiguity. The Romanian cohort was compared with multiple populations sourced from the Allele Frequencies Net Database. The study identified 635 different HLA-A/HLA-B/HLA-C/HLA-DRB1 haplotypes. Among them, two haplotypes had frequencies close to 3%: HLA-A*01:01:01/HLA-B*08:01:01/HLA-C*07:01:01/HLA-DRB1*03:01:01, with a frequency of 3.33%, and HLA-A*02:01:01/HLA-B*18:01:01/HLA-C*17:01:01/HLA-DRB1*11:04:01, with a frequency of 2.84%. All other 633 haplotypes (approximately 99.7% of the total) had frequencies below 1%. The results of the current study underscore the extremely high diversity of HLA haplotypes in this population and the fact that even the most frequent haplotypes are relatively low in prevalence (each under 5% in this cohort). These findings and the great haplotypical diversity detected highlight the importance of NGS and high-resolution HLA typing in hematopoietic stem cell and solid organ transplantation, while also contributing to the better understanding of the area-specific population genetics resulting from historical regional dynamics. Further research with larger cohorts is necessary to validate these findings and expand upon their clinical implications. Full article
(This article belongs to the Special Issue Genomics of Human Disease)
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