Efficient reinterpretation of rare disease cases using Exomiser.
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| Title: | Efficient reinterpretation of rare disease cases using Exomiser. |
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| Authors: | Vestito L; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK., Jacobsen JOB; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK., Walker S; Genomics England, United Kingdom Department of Health and Social Care, London, UK., Cipriani V; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK., Harris NL; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Haendel MA; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Mungall CJ; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Robinson P; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Smedley D; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London, UK. d.smedley@qmul.ac.uk. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2024 Dec 18; Vol. 9 (1), pp. 65. Date of Electronic Publication: 2024 Dec 18. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-024-00456-2 |
