Proof of principle concept for the analysis and functional prediction of rare genetic variants in the CYP2C19 and CYP2D6 genes
Evaluating the functionality of rare variants will become increasingly essential as rapid and cost-effective whole-genome sequencing technologies continue to advance. Our results highlight the need for further refinement of in silico prediction models, particularly those leveraging 3D crystal enzyme structures, to enhance the accuracy of functional predictions for rare genetic variants.
Authors
- Magnus Ingelman‐Sundberg (ORCID: https://orcid.org/0000-0002-7255-9079)
- Yitian Zhou (ORCID: https://orcid.org/0000-0001-9857-3509)
- Mediha Akcan (ORCID: https://orcid.org/0000-0003-4956-7916)
- Lili Milani (ORCID: https://orcid.org/0000-0002-5323-3102)
- Kristi Krebs (ORCID: https://orcid.org/0000-0003-0494-2751)
- Inger Johansson (ORCID: https://orcid.org/0000-0001-6646-4551)
- Yuchen Lu (ORCID: https://orcid.org/0000-0002-5034-1896)
Institutions
- Karolinska University Hospital (SE)
- Karolinska Institutet (SE)
- Estonian Biocentre (EE)
- University of Tartu (EE)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-05-28
- DOI
- https://doi.org/10.1186/s40246-025-00765-2
- Citations
- 8
- Primary Topic
- Pharmacogenetics and Drug Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 12.46
Funders
- European Commission
- Eesti Teadusagentuur
- Hjärnfonden
- Karolinska Institutet
- Vetenskapsrådet
- Horizon 2020 Framework Programme