[카테고리:] 블로그 (Blog)

The Phenotypic Spectrum Shaped by Genomic Imprinting 📌 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…

Genomic imprinting에 의해 결정되는 표현형 스펙트럼 📌 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. 이번 Episode 2에서는…

1. The Unanswered Questions in High-Risk Reproductive Cases Recurrent pregnancy loss, stillbirth, early infant loss, and other unexplained reproductive outcomes remain some of the most challenging situations in reproductive medicine. Even with advances in genetic testing, many families never receive a clear explanation for why a pregnancy failed or why a child was lost. Results…