Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization
ClintLR successfully encodes clinical intuition to improve ranking of rare diseases in diagnostic sequencing. ClintLR is freely available at https://github.com/TheJacksonLaboratory/ClintLR.
Authors
- Damian Smedley (ORCID: https://orcid.org/0000-0002-5836-9850)
- Martha A. Beckwith
- Peter N. Robinson (ORCID: https://orcid.org/0000-0002-0736-9199)
- Daniel Daniš (ORCID: https://orcid.org/0000-0003-0900-3411)
- Julius O.B. Jacobsen (ORCID: https://orcid.org/0000-0002-3265-1591)
- Yasemin Bridges (ORCID: https://orcid.org/0009-0002-1371-3782)
Institutions
- Queen Mary University of London (GB)
- Jackson Laboratory (US)
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
- William Harvey Research Institute (GB)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2024-10-10
- DOI
- https://doi.org/10.1016/j.gim.2024.101292
- Citations
- 2
- Primary Topic
- Health Systems, Economic Evaluations, Quality of Life
- Type
- article
- Field-Weighted Citation Impact
- 2.26
Funders
- Alexander von Humboldt-Stiftung
- National Institutes of Health
- NIH Office of the Director
- National Institute of Child Health and Human Development