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Somatic genomics as a discovery engine for biomedicine - PubMed

5 days ago
  • #biomedicine
  • #somatic mutations
  • #drug discovery
  • Somatic mutations, occurring after conception, are widespread in healthy tissues and traditionally seen as signs of aging or pre-cancer.
  • Emerging research shows somatic mutations can drive or protect against disease, offering new therapeutic strategies.
  • Somatic mutations provide a rich substrate for discovering disease-related mutant genes, such as those in hematopoietic or liver cells.
  • Somatic genetics complements germline genetics, impacting biomedicine and drug development significantly.
  • The review explores factors shaping somatic mosaicism and highlights mutations causing or protecting from disease.
  • Somatic mutations are becoming crucial for disease genetics, drug target identification, and clinical translation.