[작성자:] Ashley Zhu

Although whole exome sequencing (WES) can efficiently cover more than 90% of the protein coding sequence (CDS), some cases make it very difficult to accurately detect variants in the CDS region via WES using short reads1,2. Thus, we would like to discuss one of those cases. This patient, born in 1952, has shown recurrent falls,…

With the rapid development of genomic medicine and the increased use of WES/WGS tests, it is crucial to note the importance of continuous reanalysis versus one-time data analysis. Why? Results may change as more information accumulates. Through reanalysis, undiagnosed patients may be diagnosed, or former diagnosis results may become invalid. What is the difference between…

Patient H was a 6-year-old Korean boy who was clinically suspected of having type I Neurofibromatosis. He presented with general symptoms of type 1 neurofibromatosis which was the presence of Multiple café-au-lait spots and no other family members were affected. The patient was ordered a single gene sequencing test in a separate clinical laboratory in…

Although many are struggling, the initial diagnosis rate of rare diseases remains low. It is because there is still insufficient information and the symptoms are very diverse. Therefore, diagnosis of rare diseases should not be limited to a single analysis, so the importance of reanalysis is inevitably greater. In this article, we will take a…

‘The Good Doctors’ is a programmed series of interviews to meet doctors who face patients with rare diseases every day and hear their stories on site. These interviews were planned to help us provide better insight for physicians by recording how genetic testing for rare diseases is conducted, how it’s used at clinical sites, and…

In Feb 2019, 3billion launched genetic testing services for rare disease diagnoses based on whole exome sequencing (WES) technology. Since then, more than 40,000 patients have been sequenced at 3billion and approximately 45% of these patients have completed their diagnostic journey with us by receiving a clear molecular diagnosis. However, there are still 55% of…

Recently, WES/WGS tests have become more widely used to diagnose patients with rare diseases. Even if the same WES method is performed on the same patient, the final result may be different depending on the entity. Why is there a difference? What should be considered when choosing? We will look at the main factors that…

Getting genetic testing for pediatric disorders isn’t really a common situation, but it can happen at any time. Genetic testing in the context of pediatric disorders involves analyzing a child’s DNA to identify genetic changes or mutations that may cause or contribute to various health conditions. This testing is essential for diagnosing a wide range of genetic…

What is mitochondrial disease? Mitochondria is a small worm-like organelle that performs cellular respiration called oxidative phosphorylation. Oxidative phosphorylation is a complex biochemical pathway that produces the majority of cellular ATP used by a cell using a series of protein complexes and small molecules called electron transport chains (ETCs)1. Therefore, dysfunction in mitochondria often affects…

In a previous post, we examined how QC is performed for a WES test for rare disease diagnosis. If QC fails, sequencing cannot proceed as usual, so 3billion will request another sample. In this case, it inevitably takes 2-3 more weeks and more money due to additional sample collection and shipping, so it could feel like a…