P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory

• 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

Affiliations

Kai Lee Yap

Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine

Anthony Wong

Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago

Sachleen Tuteja

Student Inquiry & Research Program, Illinois Mathematics and Science Academy

Andrew Skol

Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago

Andy Drackley

Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago

Alexander Ing

Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago

Eleanor Hilton

Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago

Michael Carroll

Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago

Christopher McCabe

Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago

Sabah Kadri

Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine

Pamela Rathbun

Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine

Katrin Leuer

Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine

Joel Charrow

Center for Genomics, Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine