Bioinformatics

For more information check our internal site - https://bioinformatics.uky.edu

About the Section
The Bioinformatics Section is part of the Department of Pathology and Laboratory Medicine at the University of Kentucky. We develop Software applications to support a range of projects in both clinical and research areas. These projects are focused mainly in the area of precision medicine and directly or indirectly impact patient care. Some of the areas of application include Hematology, Cardiovascular diseases, Mitochondrial diseases and Clinical Microbiology.


Faculty
Kannabiran Nandakumar, PhD
Director, Bioinformatics


Projects

  • Next Generation Sequencing (NGS) based Gene Panels -
    • Hematology Gene Panel
    • Cardiovascular Gene Panels
      • Aortopathy
      • Arrythmia
      • Cardiomyopathy
      • Hypercholesterolemia
      • Ehlers-Danlos Syndrome
      • Loey-Dietz/Marfan Syndrome
      • Congenital Heart Disease
  • Mitochondrial Disease Panel
  • Medical Exome Panel
  • Research Projects in Precision Medicine -
    • Big Blue Nation Genomic Screening (BBNGS):
    • ORIEN Return of Results (ORR):
    • Clinical Microbiology -
  • Development of web applications (Click "Software" Tab on the sidebar for more information) for interpretation of Genomic variants
      • BBNGS project involves genomic screening of participants in a smaller panel with a focused set to genes to screen for genetic conditions.
      • ORR project involves screening participants for hereditary cancer mutations.
    • Development of Software tools for disease outbreak investigation using Whole Genome Sequencing (WGS) data from Salmonella enterica isolates.

 

Software

  • Web Apps:
    • VIP-ORIEN
    • VIP-BBNGS
    • GCAT
    • Omics Data Analysis
      • Hematological malignancies
      • Constitutional Genetics
      • Mitochondrial Disease Genetics

 

Teaching

  • NGS Bioinformatics Course - This course offers an introduction into the use of Bioinformatics in NGS data analysis in a clinical diagnostic lab. This course is offered as part of the Molecular rotation for MD Pathology residents.
  • Observational training/Internship - A short term observational training/internship opportunity at UK. If interested, please write to kna228 -AT- uky -DOT- EDU

Information about the Observational training/Internship can be found here - OLE Info Page

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