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Integrated ACMG-approved genes and ICD codes for the translational research and precision medicine.

📅 May 17, 2023 👤 Wable Raghunandan, Nair Achuth Suresh, Pappu Anirudh et al. 📖 Database : the journal of biological databases and curation

🤖 Plain-English Summary

A timely understanding of the biological secrets of complex diseases will ultimately benefit millions of individuals by reducing the high risks for mortality and improving the quality of life with personalized diagnoses and treatments. The results include over 17 000 diseases and 4000 ICD codes, and over 11 000 gene-disease-code combinations.

🔑 Key Findings

  • Due to the advancements in sequencing technologies and reduced cost, genomics data are developing at an unmatched pace and levels to foster translational research and precision medicine.
  • Over 10 million genomics datasets have been produced and publicly shared in 2022.
  • Diverse and high-volume genomics and clinical data have the potential to broaden the scope of biological discoveries and insights by extracting, analyzing and interpreting the hidden information.

💡 Why This Matters

Understanding this could lead to better treatments, improved diagnostics, or a deeper grasp of how the human body works — benefiting patient care globally.

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📋 Article Details

Category 🧬 Medicine & Biology
Published May 17, 2023
Journal Database : the journal of biological databases and curation
Authors Wable Raghunandan, Nair Achuth Suresh, Pappu Anirudh, Pierre-Louis Widnie, Abdelhalim Habiba
DOI 10.1093/database/baad033
Source PubMed

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