P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424006733 |
| _version_ | 1797267434236805120 |
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| author | Matt Aruta Jard Knoblauch Tanaya Jadhav Emily Xiong Yue Xing Laura Conlin Ramakrishnan Rajagopalan |
| author_facet | Matt Aruta Jard Knoblauch Tanaya Jadhav Emily Xiong Yue Xing Laura Conlin Ramakrishnan Rajagopalan |
| author_sort | Matt Aruta |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:16:31Z |
| format | Article |
| id | doaj.art-0c5d8cf620c34b659315f1d73587944f |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:16:31Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-0c5d8cf620c34b659315f1d73587944f2024-03-09T09:32:57ZengElsevierGenetics in Medicine Open2949-77442024-01-012101527P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patientsMatt Aruta0Jard Knoblauch1Tanaya Jadhav2Emily Xiong3Yue Xing4Laura Conlin5Ramakrishnan Rajagopalan6Children's Hospital of PhiladelphiaChildren's Hospital of PhiladelphiaChildren's Hospital of PhiladelphiaChildren's Hospital of PhiladelphiaChildren's Hospital of PhiladelphiaChildren's Hospital of PhiladelphiaChildren's Hospital of Philadelphiahttp://www.sciencedirect.com/science/article/pii/S2949774424006733 |
| spellingShingle | Matt Aruta Jard Knoblauch Tanaya Jadhav Emily Xiong Yue Xing Laura Conlin Ramakrishnan Rajagopalan P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients Genetics in Medicine Open |
| title | P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients |
| title_full | P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients |
| title_fullStr | P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients |
| title_full_unstemmed | P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients |
| title_short | P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients |
| title_sort | p621 benchmarking phenotype driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare mendelian disorders in pediatric patients |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424006733 |
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