Breaking the Code: How Genome Sequencing Is Revolutionizing the Diagnosis of Rare Diseases
A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Genetics and Genomics".
Deadline for manuscript submissions: 6 November 2025 | Viewed by 156
Special Issue Editors
Interests: human genetics and genomics; bioinformatics; cytogenetics and cytogenomics
Special Issue Information
Dear Colleagues,
Recent advances in genomic sequencing are transforming rare disease diagnosis and comprehension, giving patients and their families new hope around the world.
More than 300 million people worldwide are affected by uncommon diseases, many of which are genetically based. Accurate and prompt diagnosis is still a major obstacle. Whole genome sequencing (WGS), next-generation sequencing (NGS), and other advanced genomic technologies have made it possible to identify disease-causing gene variations more quickly and accurately, opening the door to more targeted therapies and enhanced clinical outcomes.
Original research and reviews examining the most recent developments in rare disease genome sequencing are requested for this Special Issue. We are looking for submissions on a variety of subjects, such as new diagnostic techniques, developments in bioinformatics, and the practical implications of genomic results.
This Special Issue aims to highlight the revolutionary potential of genome sequencing in rare disease research and patient treatment by bringing together a variety of viewpoints from genetics, bioinformatics, and clinical practice.
Dr. Massimiliano Chetta
Prof. Dr. Nenad Bukvic
Guest Editors
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Keywords
- genomics
- bioinformatics
- genetics
- cytogenetics
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