P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis
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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/S2949774425010556 |
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| _version_ | 1850141040183345152 |
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| author | Christina Tse Kaileigh Ahlquist Matthew Welland Paul de Fazio Cas Simons Lynn Pais Giles Hall Jeremiah Wander Greg Smith Laura Gauthier Anne O'Donnell-Luria Daniel MacArthur Zornitza Stark Heidi Rehm Kaitlin Samocha |
| author_facet | Christina Tse Kaileigh Ahlquist Matthew Welland Paul de Fazio Cas Simons Lynn Pais Giles Hall Jeremiah Wander Greg Smith Laura Gauthier Anne O'Donnell-Luria Daniel MacArthur Zornitza Stark Heidi Rehm Kaitlin Samocha |
| author_sort | Christina Tse |
| collection | DOAJ |
| format | Article |
| id | doaj-art-945d593f2cbb4d298a745b0c598a2186 |
| 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-945d593f2cbb4d298a745b0c598a21862025-08-20T02:29:36ZengElsevierGenetics in Medicine Open2949-77442025-01-01310301610.1016/j.gimo.2025.103016P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysisChristina Tse0Kaileigh Ahlquist1Matthew Welland2Paul de Fazio3Cas Simons4Lynn Pais5Giles Hall6Jeremiah Wander7Greg Smith8Laura Gauthier9Anne O'Donnell-Luria10Daniel MacArthur11Zornitza Stark12Heidi Rehm13Kaitlin Samocha14Broad Institute of MIT and HarvardBroad Institute of MIT and HarvardGarvan Institute of Medical ResearchMurdoch Children’s Research InstituteGarvan Institute of Medical ResearchBroad Institute of MIT and HarvardBroad Institute of MIT and HarvardMicrosoft ResearchMicrosoft ResearchBroad Institute of MIT and HarvardBroad Institute of MIT and HarvardGarvan Institute of Medical ResearchMurdoch Children’s Research InstituteBroad Institute of MIT and HarvardBroad Institute of MIT and Harvardhttp://www.sciencedirect.com/science/article/pii/S2949774425010556 |
| spellingShingle | Christina Tse Kaileigh Ahlquist Matthew Welland Paul de Fazio Cas Simons Lynn Pais Giles Hall Jeremiah Wander Greg Smith Laura Gauthier Anne O'Donnell-Luria Daniel MacArthur Zornitza Stark Heidi Rehm Kaitlin Samocha P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis Genetics in Medicine Open |
| title | P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis |
| title_full | P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis |
| title_fullStr | P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis |
| title_full_unstemmed | P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis |
| title_short | P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis |
| title_sort | p647 improving rare disease diagnosis performance of an automated pipeline for genomic reanalysis |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425010556 |
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