Perelman School of Medicine at the University of Pennsylvania

2019 Summer Workshop on Genomic and Electronic Health Record (EHR) Data

Presented by the Perelman School of Medicine (PSOM) I/T Council, IBI, Penn Genetics, PCPM, and Cancer Center

 When

Monday, June 24, 2019
7:30 AM – 11:30 AM


 Where

Gaulton Auditorium
Biomedical Research Building II/III (BRB)
421 Curie Blvd.
Philadelphia, PA 19104


 Attend

Register Here!


 Contact

For more information, please contact:
Suzanne Carlin

 Program Agenda

7:30 AM Registration and Breakfast
8:00 AM

Opening Remarks

Marylyn Ritchie, PhD 
Director - Center for Translational Bioinformatics
Associate Director for Bioinformatics in the Institute for Biomedical Informatics
Associate Director of the Center for Precision Medicine 

Jim Beinlich 
Associate Vice-President, Penn Medicine Corporate Information Services

8:10 AM -
9:10 AM

Workshop: Genome Wide Association Study using Penn Medicine Biobank and the UK Biobank
Anurag Verma, PhD

Lead Bioinformatics Scientist

9:20 AM -
10:20 AM

Workshop: Unlocking Study Variables from Clinical Notes using PennSeek and Linguamatics I2E
Danielle Mowery, PhD
Chief Research Information Officer, Penn Medicine

Nebo Mirkovic, PhD
Associate Director- Data Analytics Center, Penn Medicine

10:30 AM -
11:30 AM

Workshop: Using PennChart Slicer/Dicer Tool for EHR Data Exploration
Danielle Mowery, PhD 
Chief Research Information Officer, Penn Medicine

Wade Becker
Director, Penn Medicine Corporate Information Services


Session Details

Workshop: Genome Wide Association Study using Penn Medicine Biobank and the UK Biobank

Genetic discovery experiments along with analysis of large datasets including genetic data and clinical data can be extremely useful.  Penn Medicine BioBank is a terrific resource that includes over 50,000 consented participants from our health system.  We have genome-wide genotype data and whole exome sequence on a large number of those participants.  There is also a public resource (the UK Biobank), which includes over 500,000 individuals’ genetic and clinical data that can be used for research.  In this presentation, we will describe these two resources including: how to gain access to these resources, what types of analyses can be done, and what tools we are building to facilitate easy access to the information in these EHR-linked biobanks. 

Workshop: Unlocking Study Variables from Clinical Notes using PennSeek and Linguamatics I2E

For some research studies, a large proportion of study variables are “locked” in clinical notes. Natural language processing (NLP), a technology at the intersection of computer science, artificial intelligence, and computational linguistics, can be used to “unlock” study variables from clinical notes. We will explore two NLP tools – PennSeek and Linguamatics I2E – for understanding where study variables are documented across subspecialties and note types as well as how study variables can be extracted from clinical notes to support clinical and translational research.

Workshop: Using PennChart Slicer/Dicer Tool for EHR Data Exploration

One of the first steps to conducting clinical research is determining whether sufficient clinical data exists to study a patient population. Researchers may identify a patient population of interest based on their demographics, histories, diagnoses, and procedures among other characteristics. We will demonstrate how the PennChart Slicer/Dicer tool facilitates complex EHR data exploration and study cohort construction.