O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S294977442500130X |
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| _version_ | 1850139164860743680 |
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| author | Isabelle Cooperstein Alistair Ward Barry Moore Gabor Marth |
| author_facet | Isabelle Cooperstein Alistair Ward Barry Moore Gabor Marth |
| author_sort | Isabelle Cooperstein |
| collection | DOAJ |
| format | Article |
| id | doaj-art-d9d4d808717f438da8024d40c1feb095 |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-d9d4d808717f438da8024d40c1feb0952025-08-20T02:30:23ZengElsevierGenetics in Medicine Open2949-77442025-01-01310209110.1016/j.gimo.2025.102091O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohortsIsabelle Cooperstein0Alistair Ward1Barry Moore2Gabor Marth3University of UtahUniversity of Utah, Frameshift LabsUniversity of UtahUniversity of Utahhttp://www.sciencedirect.com/science/article/pii/S294977442500130X |
| spellingShingle | Isabelle Cooperstein Alistair Ward Barry Moore Gabor Marth O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts Genetics in Medicine Open |
| title | O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts |
| title_full | O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts |
| title_fullStr | O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts |
| title_full_unstemmed | O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts |
| title_short | O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts |
| title_sort | o15 simpheny automated patient matching for genetic diagnosis in rare disease cohorts |
| url | http://www.sciencedirect.com/science/article/pii/S294977442500130X |
| work_keys_str_mv | AT isabellecooperstein o15simphenyautomatedpatientmatchingforgeneticdiagnosisinrarediseasecohorts AT alistairward o15simphenyautomatedpatientmatchingforgeneticdiagnosisinrarediseasecohorts AT barrymoore o15simphenyautomatedpatientmatchingforgeneticdiagnosisinrarediseasecohorts AT gabormarth o15simphenyautomatedpatientmatchingforgeneticdiagnosisinrarediseasecohorts |