Genomic Insights: Exploring the Applications of Sequencing Technologies in Genetics
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 January 2025 | Viewed by 3535
Special Issue Editor
Special Issue Information
Dear Colleagues,
Next-Generation Sequencing technologies can improve our knowledge of the molecular genetics of human diseases, but may also lead to uncertainty during the interpretation of the results. Providing a definitive genetic diagnosis is critical in prenatal testing or management of severely affected paediatric patients and can be especially challenging in affected individuals in whom a broad unbiased sequencing approach such as whole-exome sequencing or whole-genome sequencing is potentially detrimental. Molecular studies are warranted to clarify the genetic basis of human diseases and emphasize the importance of functional studies in the diagnostic variant reclassification process.
Dr. Elena Bonora
Guest Editor
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Keywords
- next-generation sequencing
- whole-exome sequencing
- whole-genome sequencing
- functional studies
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