Recommendations for bioinformatics in clinical practice
These recommendations provide a consensus framework for standardising bioinformatics practices across clinical WGS applications and can serve as a practical guide to facilities that are new to large-scale sequencing-based diagnostics, or as a reference for those who already run high-volume clinical production using NGS.
Authors
- Frederik Otzen Bagger (ORCID: https://orcid.org/0000-0003-0636-8845)
- Eiríkur Briem (ORCID: https://orcid.org/0000-0001-7383-3570)
- Ying Sheng
- Ronja Hotakainen (ORCID: https://orcid.org/0000-0002-7610-8064)
- Mika Paavola (ORCID: https://orcid.org/0000-0002-2506-2115)
- Søren Vang (ORCID: https://orcid.org/0000-0002-1899-4205)
- Rasmus L. Marvig (ORCID: https://orcid.org/0000-0002-5267-3173)
- Henrikki Almusa
- Ksenia Lavrichenko
- Niklas Mähler (ORCID: https://orcid.org/0000-0003-2673-9113)
- Peter Pruisscher (ORCID: https://orcid.org/0000-0002-6987-5839)
- Khurram Maqbool (ORCID: https://orcid.org/0000-0003-2981-2582)
- Anders Jemt (ORCID: https://orcid.org/0000-0002-2219-0197)
- Eva Caceres (ORCID: https://orcid.org/0000-0003-2890-2631)
- Sofia Khan (ORCID: https://orcid.org/0000-0003-4185-8882)
- D. T. Andreasen (ORCID: https://orcid.org/0000-0002-4744-1175)
- Majbritt Busk Madsen (ORCID: https://orcid.org/0000-0003-2123-8483)
- Ramprasad Neethiraj (ORCID: https://orcid.org/0000-0001-7313-3734)
- Maria K. Haanpää (ORCID: https://orcid.org/0000-0003-3731-863X)
- Magnús Halldór Gíslason (ORCID: https://orcid.org/0000-0002-9479-6374)
- Ashish Kumar Singh (ORCID: https://orcid.org/0000-0003-4314-2941)
- Roan Kanninga
- Eevi Kaasinen (ORCID: https://orcid.org/0000-0002-1333-8049)
- V. Henmyr
- Edda María Elvarsdóttir
- Kristine Bilgrav Sæther
- Aashish Srivastava (ORCID: https://orcid.org/0000-0002-7295-1169)
- Esmee ten Berk de Boer
- Valtteri Wirta (ORCID: https://orcid.org/0000-0003-3811-5439)
- Karl Nyrén
- Mary Gertrude Lie-Nielsen
- Emilie Sofie Engdal (ORCID: https://orcid.org/0009-0001-9075-6279)
- Thomas K. Stautland
- Jone Marius Vignes
Institutions
- Reykjavík University (IS)
- Oslo University Hospital (NO)
- University Medical Center Groningen (NL)
- Karolinska University Hospital (SE)
- University of Helsinki (FI)
- Helsinki University Hospital (FI)
- Haukeland University Hospital (NO)
- Turku University Hospital (FI)
- Aarhus University Hospital (DK)
- Rigshospitalet (DK)
- Karolinska Institutet (SE)
- University Hospital of Umeå (SE)
- St Olav's University Hospital (NO)
- National University Hospital of Iceland (IS)
- Institute for Molecular Medicine Finland (FI)
- Skåne University Hospital (SE)
- KTH Royal Institute of Technology (SE)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-10-17
- DOI
- https://doi.org/10.1186/s13073-025-01543-4
- Citations
- 6
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 10.90