WEEKEND READS 📚
Recommended book of the weekend: 🍃 ☕
➡️ "THE WOMAN IN THE WINDOW" By A.J. Finn
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UNDERSTANDING ACMG GUIDELINES & CLINICAL CLASSIFICATION OF GENETIC VARIANTS
“𝓝𝓸 𝓼𝓲𝓷𝓰𝓵𝓮 𝓵𝓪𝓫𝓸𝓻𝓪𝓽𝓸𝓻𝔂 𝓱𝓪𝓼 𝓮𝓷𝓸𝓾𝓰𝓱 𝓭𝓪𝓽𝓪; 𝓬𝓸𝓵𝓵𝓪𝓫𝓸𝓻𝓪𝓽𝓲𝓿𝓮 𝓬𝓾𝓻𝓪𝓽𝓲𝓸𝓷 𝓲𝓼 𝓽𝓱𝓮 𝓯𝓾𝓽𝓾𝓻𝓮 𝓸𝓯 𝓰𝓮𝓷𝓸𝓶𝓲𝓬 𝓶𝓮𝓭𝓲𝓬𝓲𝓷𝓮.” - Professor Heidi Rehm 🧬 Genomic medicine has moved from discovery to daily clinical decision-making. At the center of this shift are the 2015 standards from the American College of Medical Genetics & Genomics (ACMG), which established a structured framework for interpreting sequence variants. 🔹 Genetic variants influence disease risk, diagnosis, prognosis, & therapeutic strategy. Without standardized interpretation, clinical decisions become inconsistent. The ACMG/AMP framework addresses this by integrating multiple evidence streams into five categories: 1. Pathogenic (Class 5) 2. Likely Pathogenic (Class 4) 3. Variant of Uncertain Significance [VUS] (Class 3) 4. Likely Benign (Class 2) 5. Benign (Class 1) This tiered system reduces interpretive subjectivity & improves reproducibility...
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