“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...
"𝔾𝕖𝕟𝕖 𝕕𝕦𝕡𝕝𝕚𝕔𝕒𝕥𝕚𝕠𝕟 𝕡𝕣𝕠𝕧𝕚𝕕𝕖𝕤 𝕒 𝕣𝕖𝕕𝕦𝕟𝕕𝕒𝕟𝕔𝕪 𝕥𝕙𝕒𝕥 𝕗𝕣𝕖𝕖𝕤 𝕠𝕟𝕖 𝕔𝕠𝕡𝕪 𝕗𝕣𝕠𝕞 𝕤𝕖𝕝𝕖𝕔𝕥𝕚𝕧𝕖 𝕔𝕠𝕟𝕤𝕥𝕣𝕒𝕚𝕟𝕥, 𝕒𝕝𝕝𝕠𝕨𝕚𝕟𝕘 𝕚𝕥 𝕥𝕠 𝕖𝕩𝕡𝕝𝕠𝕣𝕖 𝕟𝕖𝕨 𝕗𝕦𝕟𝕔𝕥𝕚𝕠𝕟𝕒𝕝 𝕤𝕡𝕒𝕔𝕖." - Dr. Richard Lewontin 🧬 Gene duplications are a driving force in evolution, offering raw material for innovation. They arise through mechanisms like unequal crossing over, retroposition, or whole-genome duplication (WGD). Once a gene is duplicated, one copy can conserve its original role, while the other diverges; fueling new functions, adaptations, or even nonfunctionalization (pseudogenes). 🔹 The evolutionary fates of gene duplications includes: Subfunctionalization: split ancestral functions across duplicates. Neofunctionalization: gain of new roles, which is vital for innovation. Pseudogenization: loss of function. A classic case is the globin gene family: duplications enabled the evolution of h...
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