Variant identification and interpretation

Author: Jorge David Mendez-Rios

About this article

This editorial highlights the complexity of variant identification through molecular technologies, emphasizing the need for protocols, quality controls, and clinical expertise. Interpretation of genomic variants requires in-depth knowledge, repetitive literature review, and understanding of epidemiology, statistics, and research methodology. Proficiency in utilizing variant databases and understanding population frequencies is crucial for accurate clinical molecular diagnosis.

It also introduces three clinical cases in molecular diagnostics: Allan-Herndon-Dudley Syndrome, familial hypercholesterolemia, and Pitt-Hopkins Syndrome. These cases illustrate diverse approaches and methodologies in the region, showcasing the implementation of molecular diagnostics. Additionally, the text discusses the genetic basis of pain perception, emphasizing the role of genetic, epigenetic, and environmental factors in individual pain responses. The author also underscores regional initiatives in molecular diagnostics and precision medicine, emphasizing the advancements in Genetics and Clinical Genomics within the countries. It reflects collaborative knowledge sharing and experiences, demonstrating the progress made in the field. In summary, it expresses gratitude to readers for their support and invites them to engage in future academic discussions. It encourages participation in upcoming issues and anticipates continued reader enjoyment and learning from the shared knowledge and experiences.