Ben Busby is the founder of the Department of Bioinformatics and Data Science at NIH. He discusses several bioinformatics tools and resources developed during NIH hackathons, including tools for polygenic SNP search, RNAseq analysis, and virus discovery. Upcoming hackathon events focus on RNAseq, human pan-genomics, variant datasets, and more. The goal is to create an open bioinformatics community.

1. Ben Busby, Ph.D.
Data Science Education Something…
NCBI et al
Founder, Department of Bioinformatics and Data Science, FAES
ben.busby@nih.gov, @dcgenomics, LinkedIn
Prototype ML Software for Analysis of RNAseq, and Development of RNAseq
for ML-ready Applications Developed in NIH-Hackathons!

2. Polygenic SNP Search Tool
https://github.com/NCBI-
Hackathons/PSST

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4. https://github.com/NCBI-
Hackathons/GenomicRobots

5. https://github.com/NCBI-Hackathons/Complex_Phenogeno

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7. phenvar.colorado.edu

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9. Combined score is
the average of SVs,
mappability, GC..
NCBI region list
Encode blacklist

11. https://github.com/NCBI-
Hackathons/ViruSpy

12. https://github.com/NCBI-
Hackathons/EndoVir

13. https://github.com/NCBI-
Hackathons/VirusFriends

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Data Hackathons!

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Planned Events
RNAseq – UNC, March 11-13 2019;
Palo Alto, June 2019
Smaller events at USF and Pittsburgh
Human PanGenomics – UCSC, 25-27 March 2019;
Haplotype Annotation, Baltimore, June 2019
Variant Synthetic Dataset Generation –
Boston, April 15-16, 2019
AMR and Prokaryotic Genome Annotate-athon
NIH Campus, August 2019

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Virus Discovery!

20. Creating a Community
https://biohackathons.github.io
MACHINE LEARNING
PROJECT MANAGEMENT
PRODUCT MANAGEMENT

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https://github.com/NCBI-Hackathons/personalgenomics

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