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In the realm of modern medicine, the landscape of diagnosis and disease management has been forever altered by the advent of genetic testing. From rare inherited disorders to complex multi-factorial diseases, genetic testing has emerged as a powerful tool that transcends boundaries and limitations. It is important to emphasize that the evolution of Next-Generation Sequencing (NGS)…

There are more than 7000 types of rare diseases that have been identified so far, and only about 5% of them have a treatment. However, recently, there has been a lot of interest in the pharmaceutical market for rare disease drug development. As of 2020, 58% of FDA-approved drugs are orphan disease treatments, and more…

Recently, various test methods using NGS technology (Panel Sequencing, WES, and WGS) are being utilized to diagnose rare genetic diseases. The test method is generally selected at the discretion of the physician upon evaluation of the patient’s symptoms. In the past, CMA (Chromosomal Microarray Analysis) and Sanger Sequencing have been recommended as first-tier tests. But…

The television series Extraordinary Attorney Woo streaming on Netflix has become a global box office hit. As proof of its success, it entered the All-time top 10 list of Non-English TV series on Netflix as of late August, 2022. Fig. 1. from: top10.netflix.com/tv-non-english Extraordinary Attorney Woo consists of a series of courtroom episodes surrounding the protagonist, who has…

Thalassemia is a rare genetic disease that reduces the production of hemoglobin, leading to anemia. When there is a lack of hemoglobin, the body’s red blood cell can’t function correctly and the periods of time last shorter. It causes less healthy red blood cells that carry oxygen to all cells of the body. What are…

Until now, we have mainly talked about the Whole Exome Sequencing (WES) -based diagnostic tests. However, as introduced in the ‘Limitation of Whole Exome Sequencing’, there are several limitations that exist with WES. Some exon regions are not covered well during target enrichment and PCR amplification processes of sequencing, and structural variants (SV) analysis with…

How hereditary diseases changed our history—from ancient Egypt and the House of Habsburg to the House of Romanov Introduction Whether in the East or the West, humankind has taken a keen interest in heredity and genetic diseases from ancient to modern times. A typical example of this is the theory of heredity and hereditary disease…

As a medical professional, staying informed and connected with the latest advancements in the field is crucial. Doctors(Physicians) often rely on various websites to access medical resources, research articles, clinical guidelines, and educational content. In a poll of over 2,200 physicians, 33% said they reference a medical website daily, and 48% reference it two-three times…

Sequencing Depth vs Coverage Physicians and researchers often consider the comparison between sequencing depth and coverage when performing genetic or genomic analyses for several reasons. While these terms are related, they provide different insights into the quality and reliability of the sequencing data. Understanding their implications helps ensure accurate and meaningful results for clinical and research purposes.…