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📍Key Takeaways Missed Part 1? Read it here! [Go to Article] Why do raw data and clinical reports differ? “Why wasn’t this variant reported?” After WES/WGS testing, many users review their VCF files (annotated data).And very naturally, they ask questions like: To answer these questions, we need to clarify one key point first. Raw data…

Is a single genetic test result the end of the diagnostic journey? At 3billion, we believe diagnosis is an ongoing process. That’s why we focus not only on the test itself, but on what comes after:Reanalysis. For all cases previously reported as Inconclusive or Negative,3billion performs automated reanalysis through a continuous system.Each month, dozens of…

📍Key Takeaways When you order a genomic test and receive a report, you typically see a summary of a few variants along with their interpretations.However, behind those results lies a much more complex analytical process than it may appear. In this article, we will walk through how WES/WGS-based testing is actually performed, focusing on the…

📍Key Takeaways1. CD8 T cells can’t degrade kynurenine — KYNU is missing. That’s why T cell suppression persists even when IDO1 is blocked. 2. G-APCs express 32× more KYNU than M-APCs. The APC subtype in the tumor microenvironment may determine whether kynurenine-induced suppression happens at all. 3. KYNU-expressing G-APCs restore CD8 T cell function —…

📍Key Takeaways Marfan syndrome is a systemic connective tissue disorder caused by pathogenic variants in the FBN1 gene. Affecting approximately 1 in 5,000 individuals worldwide, it carries life-altering cardiovascular risks that are largely preventable with timely diagnosis and surveillance. Yet diagnostic delay — averaging 5 to 7 years in published cohorts — remains a persistent…

📍Key Takeaways Fragile X Syndrome (FXS) is a genetic disorder characterized by intellectual disability and features of autism spectrum disorder. It is the most common single-gene cause of inherited intellectual disability, and it carries an average diagnostic delay of several years from initial clinical concern. 1. FMR1 and CGG Repeat Expansion — How Full Mutation…

Williams-Beuren Syndrome is a rare neurodevelopmental disorder caused by a 1.5–1.8 Mb hemizygous deletion at chromosome 7q11.23, occurring in approximately 1 in 7,500–10,000 live births worldwide. 📍Key Takeaways 1. Etiology: 7q11.23 Deletion and Genetic Mechanism WBS results from a hemizygous deletion of approximately 26–28 genes at chromosome 7q11.23, including ELN (elastin), LIMK1, and GTF2I. Haploinsufficiency…

📍Key Takeaways  Usher syndrome is classified as a rare disease, but it is far from rare compared to most conditions in that category. While the majority of rare diseases affect approximately 1 in 1,000,000 people , the global average prevalence of Usher syndrome is estimated at approximately 1 in 25,000. This speaks to the significant…

In clinic, we frequently encounter patients like these: As we go through the diagnostic workup—CMA, single gene tests, targeted panels—there are still many cases where we fail to reach a definitive diagnosis. This is often referred to as the “diagnostic journey.” The Direction Was Already Set in 2021 There is an important reference point for…