Advances in Genomics and Bioinformatics of Human Disease
A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".
Deadline for manuscript submissions: 30 November 2025 | Viewed by 64
Special Issue Editor
Interests: next generation sequencing and data analysis; data analysis; RNAseq and ScRNA analysis; metagenomics; comparative genome analysis and metabolic modeling; interaction studies
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Advances in genomics and bioinformatics have significantly deepened our understanding of human diseases, driving a shift toward precision medicine. High-throughput sequencing technologies, including long-read sequencing and single-cell RNA sequencing, now enable researchers to identify genetic variations, epigenetic modifications, and cellular heterogeneity with unprecedented precision. CRISPR-Cas9 and base-editing technologies facilitate targeted gene manipulation, empowering functional studies of disease-associated mutations. Simultaneously, bioinformatics has been dramatically enhanced by artificial intelligence (AI) and machine learning (ML), which improve genomic data analysis through accurate variant interpretation, pathogenicity prediction, and identification of novel therapeutic targets. The integration of multi-omics data—genomics, transcriptomics, proteomics, and metabolomics—offers comprehensive insights into disease mechanisms, fostering the discovery of biomarkers and personalized therapeutic strategies. These advancements are accelerating research into complex diseases such as cancer, cardiovascular disorders, and neurodegenerative conditions, refining diagnostic and prognostic capabilities, and paving the way for tailored treatments that significantly enhance patient outcomes and advance global healthcare.
Dr. Sankarasubramanian Jagadesan
Guest Editor
Manuscript Submission Information
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Keywords
- genomics
- bioinformatics
- precision medicine
- single-cell RNA sequencing
- genetic variations
- cellular heterogeneity
- AI/ML
- pathogenicity prediction
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