[태그:] 3billion

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TL;DR Imagine a seemingly healthy adult, in the prime of their life, suddenly dying in their sleep or collapsing without warning. When an autopsy reveals a structurally perfect heart, the cause is often classified under Sudden Arrhythmic Death Syndrome (SADS). The silent driver behind many of these tragedies is Brugada Syndrome (BrS). BrS primarily strikes otherwise healthy…

[Interpretation Notes #2] ROH vs. UPD: Similar Genomic Patterns, Different Biological Meanings

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Chan

안 블로그 (Blog)

Genomic sequencing can reveal long stretches of the genome in which the variants are predominantly homozygous. These regions of homozygosity (ROH) can provide important clues about an individual’s inheritance pattern and may help identify clinically relevant genetic mechanisms. One mechanism that can produce a large ROH is uniparental disomy (UPD). However, an ROH does not…

[판독노트 #2] ROH와 UPD의 차이: 유전체 분석에서의 임상적 의미

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Chan

안 블로그 (Blog)

유전체 시퀀싱 결과에서 변이가 대부분 동형접합으로 나타나는 긴 구간이 관찰될 때가 있습니다. 이러한 동형접합영역(ROH, Region of Homozygosity) 은 환자의 유전 양상에 대한 중요한 단서를 제공하며, 임상적으로 의미 있는 유전 기전을 찾는 출발점이 되기도 합니다. 큰 ROH를 만들 수 있는 대표적인 기전 중 하나가 단친이염색체(UPD, Uniparental Disomy) 입니다. 그러나 ROH가 있다고 해서 반드시 UPD인 것은 아니며,…

3billion Selected for Philippine Government-Led Newborn Genomic Diagnostics Project

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SEOUL, South Korea, June 11, 2026 — 3billion, an AI-powered rare disease diagnostics company, announced that it has been selected to provide genomic diagnostic services for a newborn screening project led by the Institute of Human Genetics (IHG) of the National Institutes of Health at the University of the Philippines Manila. The project will provide…

3billion Signs Genomic Analysis Contract with Asan Medical Center for K-gNBS Project

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SEOUL, South Korea, June 15, 2026 — 3billion, an AI-powered rare disease diagnostics company, has signed a contract with Asan Medical Center to provide genomic analysis and variant interpretation for the Whole-Genome Sequencing-Based Newborn Screening (K-gNBS) Project. Supported by the Korea Disease Control and Prevention Agency (KDCA), K-gNBS is a research project focused on genetic…

3billion Showcases AI-Powered Genomic Testing Capabilities at ESHG 2026

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SEOUL, South Korea, June 16, 2026 — 3billion, an AI-powered rare disease diagnostics company, announced that it showcased its AI-powered genetic testing services at the European Human Genetics Conference (ESHG 2026), held in Gothenburg, Sweden, from June 13 to 16. Organized by the European Society of Human Genetics (ESHG), the European Human Genetics Conference is…

3billion to Attend the 2026 BIO International Convention

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SEOUL, South Korea, June 18, 2026 — 3billion, an AI-powered rare disease diagnostics company, announced that it will attend the BIO International Convention, taking place in San Diego from June 22 to 25. Hosted by the Biotechnology Innovation Organization (BIO), the convention is the world’s largest and most comprehensive event for the biotechnology industry. It…

건강하던 성인의 돌연사, 유전자 검사 정상인데도 안심할 수 없는 이유: 브루가다 증후군(Brugada Syndrome)의 경고

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Sookjin Lee

안 블로그 (Blog)

요약 (TL;DR) 살면서 가장 두려운 순간 중 하나는 어제까지 멀쩡히 건강하던 사람이 어느 날 밤 잠자리에서, 혹은 갑자기 길을 걷다 돌연사(급사)하는 비극을 마주할 때일 것입니다. 부검을 해도 심장의 구조적 문제가 전혀 나타나지 않는 ‘돌연 부정맥사 증후군(SADS)’ 의 핵심 배후에는 ‘브루가다 증후군(Brugada Syndrome, BrS)’이라는 무서운 희귀성 부정맥 질환이 숨어 있습니다. 이 질환은 30~50대의 건장한 중년 남성에게 주로 발생하며,…

3billion’s H1 2026 Revenue Rises 56% to KRW 7.2 Billion

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SEOUL, South Korea, August 13, 2026 — 3billion, an AI-powered rare disease diagnostics company, reported consolidated revenue of KRW 7.2 billion for the first half of 2026, up 56% from approximately KRW 4.6 billion in the same period last year. Second-quarter revenue reached KRW 3.8 billion, up 46% year over year and 13% quarter over…

Four 3billion Papers Accepted to ICML 2026 Workshops

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