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Results for Human Phenotype Ontology

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1 - 7 of 7

In the News: Big Data Analysis, High-risk Neuroblastoma, D3b Supports Tumor Sample Milestone

Published on
Apr 14, 2023
in Cornerstone Blog
In the News
Learn about a technique to analyze large datasets, preclinical results that show safety and efficacy of a drug that could help children with high-risk neuroblastoma, and a milestone in the CORSICA project that seeks to cure rare sinonasal cancers.

CHOP Researcher to Lead U.S. Immunodeficiency Network

Published on
Mar 27, 2023
in Cornerstone Blog
CHOP Researcher to Lead U.S. Immunodeficiency Network
USIDNET will enhance its resources to improve the state of genetic diagnostics for patients with primary immunodeficiency diseases.

Roberts Individualized Medical Genetics Center Breaking Down Silos to Share Data

Published on
Oct 30, 2019
in Cornerstone Blog
Roberts Individualized Medical Genetics Center’s team
Roberts Individualized Medical Genetics Center’s new large genetic database and portal is now accessible to all CHOP investigators.

From Big Dreams to Big Data in Pediatrics: Q&A With Jeff Pennington

Published on
Dec 3, 2018
in Cornerstone Blog
Jeff Pennington
An ambitious project is under way to create a holistic picture of pediatric health and disease by building a one-of-its-kind library based on all of the data generated at CHOP.

Automated Informatics Tool May Streamline Genetic Diagnoses

Published on
Jul 2, 2018
in Press Releases
A scientist in Children's Hospital of Philadelphia's (CHOP) Department of Biomedical and Health Informatics (DBHi) and the Raymond G. Perelman Center for Cellular and Molecular Therapeutics developed a new software tool that rapidly extracts phenotype information from electronic health records (EHRs) to facilitate genetic diagnoses.

Helbig Laboratory Research Overview

View an overview of research from the Helbig Lab.

Helbig Laboratory

Helbig Lab

The Helbig Lab uses computational methods to understand the role of clinical and genetic factors in childhood epilepsies, facilitating precision medicine approaches.

1 - 7 of 7
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In this section

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Organizations

  • Department of Biomedical and Health Informatics (3)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (2)
  • Center for Childhood Cancer Research (1)
  • Center for Data-Driven Discovery in Biomedicine (1)
  • Division of Allergy and Immunology (1)
  • Division of Neurology (1)
  • Helbig Laboratory (1)
  • Immune Dysregulation Program (1)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (1)
  • Roberts Individualized Medical Genetics Center (1)

In this section

Organizations

  • Department of Biomedical and Health Informatics (3)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (2)
  • Center for Childhood Cancer Research (1)
  • Center for Data-Driven Discovery in Biomedicine (1)
  • Division of Allergy and Immunology (1)
  • Division of Neurology (1)
  • Helbig Laboratory (1)
  • Immune Dysregulation Program (1)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (1)
  • Roberts Individualized Medical Genetics Center (1)
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