Research map: Clinical implementation of polygenic risk scores—updates on ancestry-adjusted PRS and their use in practice

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Papers in this map

  1. European polygenic risk score for prediction of breast cancer shows similar performance in Asian women · Weang-Kee Ho · 2020 · 151 citations · Cited by this paper
  2. Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study · 2026 · Related
  3. A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women · Yiwey Shieh · 2019 · 94 citations · Cited by this paper
  4. The co-design, development, and preliminary evaluation of a comprehensive breast cancer risk report incorporating polygenic risk information · 2026 · Related
  5. The importance of ethnicity: Are breast cancer polygenic risk scores ready for women who are not of White European origin? · D. Gareth Evans · 2021 · 43 citations · Cited by this paper
  6. A thick opt-out for genomic newborn screening, retention, and reuse of genomic data · 2026 · Related
  7. Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population · Lorenzo Ficorella · 2025 · 16 citations · Cited by this paper
  8. When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants · 2026 · Related
  9. Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial · Kirkpatrick B. Fergus · 2025 · 16 citations · Cited by this paper
  10. PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery · 2026 · Related
  11. Clinical implementation of polygenic risk scores · Eleanor Roberts · 2025 · 7 citations · Cited by this paper
  12. A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada · 2026 · Related
  13. Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry · James Li · 2026 · 6 citations · Cited by this paper
  14. Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools · 2026 · Related
  15. Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent · Eleanor Roberts · 2023 · 5 citations · Cited by this paper
  16. Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project · 2026 · Related
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  18. Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics · 2026 · Related
  19. Family-oriented support in genetic counselling: a scoping review of clinical practice and psychotherapeutic interventions · 2026 · Related

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