Neural Network Approaches for Reducing Healthcare Costs Kimberly Robasky Translational Research Scientist, Renaissance Computing Institute Adjunct Professor, Department of Genetics Adjunct Professor, School of Information and Library Science Core Faculty, Carolina Health Informatics Program University of North Carolina, Chapel Hill [email protected]
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Neural Network Approaches for Reducing Healthcare Costs · 2019-06-21 · Neural Network Approaches for Reducing Healthcare Costs Kimberly Robasky Translational Research Scientist,
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Kimberly RobaskyTranslational Research Scientist, Renaissance Computing InstituteAdjunct Professor, Department of GeneticsAdjunct Professor, School of Information and Library ScienceCore Faculty, Carolina Health Informatics ProgramUniversity of North Carolina, Chapel [email protected]
Diagnostics for dermatology, cardiology, immunology, and more
Neonatal carrier screening panel
Clinical exomes, Oncology, neurology, others
Oncomine
Cancer panels, exomes, transcriptomes
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Color: cancer risk
Celmatix: fertility
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Is Genome Interpretation a Solved Problem?
Genomic variant prioritization, reporting incidental findings: not a solved problem
The American Journal of Human Genetics 2016 98, 1067-
1076DOI: (10.1016/j.ajhg.2016.03.024)
Why Is Genome Interpretation So Challenging?
Genomic Data ExplosionGenomic Data Explosion
Genomic Data ExplosionGenomic Data Explosion
Genomic Data ExplosionGenomic Data Explosion
Genomic Data ExplosionGenomic Data Explosion
Genomic Data ExplosionGenomic Data Explosion
Genomic Data ExplosionGenomic Data Explosion
Genomic Data Explosion
Source: xcode
Genomic Data Explosion
So Much Data!
90% of all data existing today was created in the last two years and…people create 2.5 quintillion bytes of data per day. (To visualize this number, according to a post from Yappn Corp, imagine covering the surface of the Earth with pennies — five times.)
~ Stan Ahalt, RENCI DirectorUNC University GazetteJune 2019
What Can Help Overcome the Challenges of Genome Interpretation?