[카테고리:] 블로그 (Blog)
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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…
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왜 모든 변이를 Sanger로 확인할 수 없을까?
Exome·Genome 검사 후 가족검사에서 꼭 알아야 할 점 Exome이나 Genome 검사 결과를 받아본 뒤, 임상의나 보호자는 자연스럽게 가족검사를 떠올리게 됩니다. 그래서 많은 고객분들이 Exome·Genome 결과를 확인한 뒤, 쓰리빌리언의 Sanger sequencing 기반 가족검사 서비스인3B-VARIANT를 통해 가족검사를 의뢰하고자 합니다. 하지만 실제로 3B-VARIANT를 진행하려고 하면, 다음과 같은 상황을 마주하기도 합니다. “해당 변이는 Sanger sequencing 기반 가족검사가 제한될 수…
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Duo / Trio Analysis, Now as Fast as Proband-only Analysis
Duo / Trio analysis is not a new concept in genomic analysis. Family-based analysis has long been utilized as a core method to enhance diagnostic accuracy. Nevertheless, many analysis pipelines have operated under the unspoken assumption that “Duo / Trio analysis is inherently slower.” This latest GEBRA™ update began by viewing this premise not as a…
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Duo / Trio 분석, 이제 Proband만큼 빨라집니다
유전체 분석에서 Duo / Trio 분석은 새로운 개념이 아닙니다.가족 기반 분석은 이미 오래전부터 진단 정확도를 높이는 핵심 방법으로 활용되어 왔습니다. 그럼에도 불구하고, 많은 분석 파이프라인에서는 여전히 다음과 같은 전제가 암묵적으로 받아들여져 왔습니다. “Duo / Trio 분석은 본질적으로 느릴 수밖에 없다.” GEBRA™의 이번 업데이트는 이 전제를 단순한 성능 문제가 아닌 분석 구조의 문제로 바라보는 데서 출발하였습니다.…
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Beyond NIPT: Bridging the 60% Genetic Risk Gap with gNBS
Introduction: The Missing Piece in the NIPT Era Over the last decade, Non-Invasive Prenatal Testing (NIPT) has revolutionized prenatal care. While screening efficacy for major aneuploidies like T13, T18, and T21 now approaches 99%, a significant clinical gap remains. In practice, a vast majority of congenital anomalies are not caused by chromosomal numerical aberrations, but…
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NIPT ‘저위험군’이 간과하는 60%의 위험: de novo 변이와 gNBS
들어가며: NIPT 중심 시장, 우리가 놓치고 있는 것들 지난 10년간 산전 진단 시장은 NIPT(Non-Invasive Prenatal Testing)를 중심으로 비약적인 성장을 거듭해 왔습니다. T13, T18, T21 등 주요 염색체 이배체성(Aneuploidy)에 대한 선별률은 99%에 육박하지만, 정작 임상 현장에서 마주하는 희귀 질환 환아들의 상당수는 염색체 수적 이상이 아닌 단일 유전자 변이(Single Gene Variant)에 기인합니다. 단순히 염색체의 외형적 숫자를 세는…
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GEBRA™ HPO Visualizer
The newly introduced HPO Visualizer transforms complex symptom data into intuitive visual information, dramatically improving readability and interpretation efficiency during phenotype-driven analysis. 💡 What’s New? 🧭 Where to Find It? In the variant list, click the 📘 View disease details icon next to any disease name. Along with the existing disease information, you will find…