[카테고리:] 블로그 (Blog)
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Differential Diagnosis of Infantile Hypotonia: A Clinical Guide to Genetic Testing Integration
🎯Key Takeaways for Clinicians Introduction Infantile hypotonia, often referred to as “floppy infant syndrome,” presents a diagnostic challenge for even the most experienced pediatricians and neurologists. With an extensive range of potential etiologies—spanning from central nervous system disorders to peripheral neuromuscular diseases—the path to a definitive diagnosis can be arduous. In an era where early…
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Beyond the Variant: Interpreting Genetic Diseases in the AI Era – Episode 1 — Charcot–Marie–Tooth Disease (CMT)
Understanding CMT Through Mechanism, Not Just Diagnosis 📌 Series Introduction In an era where AI-based variant interpretation tools have become widely adopted, this series focuses on what human interpreters must still understand and decide after automated prioritization. Each episode centers on a specific disease group, examining genetic mechanisms and clinical spectra together, with the goal…
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Beyond the Variant: Interpreting Genetic Diseases in the AI Era – Episode 1 – Charcot–Marie–Tooth Disease (CMT)
진단명보다 중요한 것 – 기전(mechanism)으로 이해하는 CMT 📌 Series Introduction 이 시리즈는 AI 기반 유전변이 판독 도구가 보편화된 시대에, 자동화된 우선순위화 이후 판독자가 실제로 무엇을 이해하고 어떻게 판단해야 하는지에 초점을 맞춥니다. 각 편에서는 하나의 질환군을 중심으로, 유전적 기전과 임상 스펙트럼을 함께 살펴보며 변이를 “찾는 것”을 넘어 “설명하고 해석하는” 데 필요한 관점을 공유하고자 합니다. Episode 1…
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Beyond the Variant: Interpreting Genetic Diseases in the AI Era
This series focuses on what human interpreters truly need to understand and judge after automated prioritization, in an era where AI-based variant interpretation tools have become commonplace. Each episode centers on a specific disease group, exploring both the underlying genetic mechanisms and the clinical spectrum, and aims to share perspectives needed to move beyond simply…
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Beyond the Variant: Interpreting Genetic Diseases in the AI Era
이 시리즈는 AI 기반 유전변이 판독 도구가 보편화된 시대에, 자동화된 우선순위화 이후 판독자가 실제로 무엇을 이해하고 판단해야 하는지에 초점을 맞춥니다. 각 편에서는 하나의 질환군을 중심으로, 유전적 기전과 임상 스펙트럼을 함께 살펴보며 변이를 “찾는 것”을 넘어 “설명하고 해석하는” 데 필요한 관점을 공유하고자 합니다. Episode 0 — Beyond the Variant 📌 Series Introduction 이 시리즈는 AI 기반…
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The BEACONS Project: Why 746 Genes are Redefining Newborn Whole Genome Sequencing (WGS)
At a Glance: The BEACONS Project Executive Summary: What is the BEACONS Project? The BEACONS (Building Evidence and Collaboration for Genomics in Nationwide Newborn Screening) project is a pioneering U.S. initiative aimed at integrating Whole Genome Sequencing (WGS) into public health newborn screening. It focuses on 746 genes linked to 777 conditions that are clinically…
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Family Testing: When and Why Is It Necessary?
Why family studies matter after Exome or Genome sequencing 1. From “a variant” to “a diagnosis” Exome and genome sequencing can identify thousands of genetic variants in a single test. However, once results are returned, clinicians and families often face the same fundamental question: “Is this variant truly responsible for my child’s symptoms?” Answering this…
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How Much is a DNA Test? A Strategic Guide to Value and Costs
“Is a cheap DNA test always the right choice? Explore the factors that determine costs based on testing scope (WES, WGS) and use our checklist to find the right test for your needs.” When searching for the cost of a DNA test, you will encounter a wide range of prices, from as little as $50…
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Autism Spectrum Disorder: Which Genetic Test Does Your Child Actually Need?
If you’ve discovered that autism can be linked to genetic factors, the next natural question is: “How can I find the specific cause for my child?” With various testing options available, choosing the right one can be overwhelming. This guide simplifies the clinical path to help you secure the most accurate diagnosis and better plan…
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Why Can’t All Variants Be Confirmed by Sanger Sequencing?
What to know about family testing after Exome or Genome sequencing After receiving Exome or Genome sequencing results, clinicians and families naturally begin to consider family testing. For this reason, many customers request family testing through 3B-VARIANT, 3billion’s Sanger sequencing–based family study service, after reviewing Exome or Genome results. However, when attempting to proceed with…