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Biomedical Informatics Update and Tools Arthur Berg, PhD

Biomedical Informatics Update and Tools Arthur Berg, PhD

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Biomedical Informatics Update and Tools Arthur Berg, PhD. Bioinformatics Core Services. Focused Technologies Candidate genes Functional SNPs Focus PCR array Analytical Methods Genetic association Biomarker analysis CNV analysis Multiple hypothesis correction Genetic signatures - PowerPoint PPT Presentation

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Page 1: Biomedical Informatics  Update and Tools Arthur Berg, PhD

Biomedical Informatics Update and Tools

Arthur Berg, PhD

Page 2: Biomedical Informatics  Update and Tools Arthur Berg, PhD
Page 3: Biomedical Informatics  Update and Tools Arthur Berg, PhD

Bioinformatics Core Services Annotating NGS Data

Whole genome Exome ChIP-seq TCGA (sequence & GWAS)

Other Genome-Wide Data Structures

Gene expression array SNP array Proteomics (iTRAQ) Methylation array Exon array

Novel Methodology

Focused Technologies Candidate genes Functional SNPs Focus PCR array

Analytical Methods Genetic association Biomarker analysis CNV analysis Multiple hypothesis correction Genetic signatures Predictive models Pathway/GO analysis Haplotype analysis Gene-environment interaction

Page 4: Biomedical Informatics  Update and Tools Arthur Berg, PhD

Clinical Informatics Research Core

Arthur Berg, PhD

Robert Aronoff, MD

Ben Tshudy, BS

Lab valuesBilling codesMedicationsPayer dataAdmission data

Diagnosis codesDiagnosis testsPhysician providerConsultsPatient education

The Clinical Informatics Research Core provides services to perform electronic health record data extraction for research use in a manner that is IRB-compliant and insures the privacy and security of patient data.

Enterprise Data Warehouse

i2b2 Health Facts

Page 5: Biomedical Informatics  Update and Tools Arthur Berg, PhD

Other Informatics Services & Tools

REDCap New CoM/IRB Policy on Data Security and Integrity – in essence,

all investigator initiated studies should be using REDCap

free, secure, fast, flexible, multi-site access, customizable, auto-validation, branching logic, calculated fields, de-identified export,…

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