P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423006386 |
| _version_ | 1827242912689160192 |
|---|---|
| author | Kai Lee Yap Anthony Wong Sachleen Tuteja Andrew Skol Andy Drackley Alexander Ing Eleanor Hilton Michael Carroll Christopher McCabe Sabah Kadri Pamela Rathbun Katrin Leuer Joel Charrow |
| author_facet | Kai Lee Yap Anthony Wong Sachleen Tuteja Andrew Skol Andy Drackley Alexander Ing Eleanor Hilton Michael Carroll Christopher McCabe Sabah Kadri Pamela Rathbun Katrin Leuer Joel Charrow |
| author_sort | Kai Lee Yap |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:26:52Z |
| format | Article |
| id | doaj.art-a87bd78889bb459db14be70c729cb299 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2025-03-21T22:03:55Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-a87bd78889bb459db14be70c729cb2992024-05-25T04:58:36ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100638P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratoryKai Lee Yap0Anthony Wong1Sachleen Tuteja2Andrew Skol3Andy Drackley4Alexander Ing5Eleanor Hilton6Michael Carroll7Christopher McCabe8Sabah Kadri9Pamela Rathbun10Katrin Leuer11Joel Charrow12Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of MedicineStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of ChicagoStudent Inquiry & Research Program, Illinois Mathematics and Science AcademyCenter for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of ChicagoCenter for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of ChicagoCenter for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of ChicagoCenter for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of ChicagoStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of ChicagoCenter for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of ChicagoCenter for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of MedicineCenter for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of MedicineCenter for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of MedicineCenter for Genomics, Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicinehttp://www.sciencedirect.com/science/article/pii/S2949774423006386 |
| spellingShingle | Kai Lee Yap Anthony Wong Sachleen Tuteja Andrew Skol Andy Drackley Alexander Ing Eleanor Hilton Michael Carroll Christopher McCabe Sabah Kadri Pamela Rathbun Katrin Leuer Joel Charrow P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory Genetics in Medicine Open |
| title | P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory |
| title_full | P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory |
| title_fullStr | P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory |
| title_full_unstemmed | P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory |
| title_short | P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory |
| title_sort | p591 assessing the performance of automated hpo term extraction for deep phenotyping of patients receiving wes wgs in a clinical diagnostic laboratory |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423006386 |
| work_keys_str_mv | AT kaileeyap p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT anthonywong p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT sachleentuteja p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT andrewskol p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT andydrackley p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT alexandering p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT eleanorhilton p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT michaelcarroll p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT christophermccabe p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT sabahkadri p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT pamelarathbun p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT katrinleuer p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory AT joelcharrow p591assessingtheperformanceofautomatedhpotermextractionfordeepphenotypingofpatientsreceivingweswgsinaclinicaldiagnosticlaboratory |