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Ben Busby, Ph.D. Genomics Outreach Coordinator NCBI [email protected] Exploring the Many Possible Futures of Genomics Making the Transition from Sharing Data to Sharing Knowledge

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Ben Busby, Ph.D.Genomics Outreach Coordinator

[email protected]

Exploring the Many Possible Futures of Genomics

Making the Transition from Sharing Data to Sharing Knowledge

NCBI

Better PubMed Searches!

For more information go to:ncbi.nlm.nih.gov/learn

Review of terminology and conceptsNext Generation Sequencing

Graphic Credit: Spencer Martin, UBC

Review of terminology and conceptsHow Genomes are Mapped and Assembled

© Martine Zilversmit 2013

http://1.usa.gov/1J1xmYs

NCBI NGS Online Workshop – Available on the NCBI YouTube Channel!

Review of terminology and conceptsHow Genomes are Mapped and Assembled

My View of Data Transfer Principles• Metadata Search

• Rapid NoSQL (for now)• Integration• Non-ambiguous identifiers

• Transferring Small amounts of Data• Data still gets transferred in the cloud• Underlying structure• Finding specific data from validated formats

• Democratization of Data• Rapid comparison by domain experts

• Reporting• Metrics to report data upload and [unique IP] download of datasets• Post-publication User Review

• The NCBI LinkOut Mechanism as a test suite

BioProject

BioProject

Reporting

BioSample

BioSample

Investigation of NGS:SRA BLAST!

Investigation of NGS:MagicBLAST!

dbGaP

dbGaP

2007 2008 2009 2010 2011 2012 2013 2014 2015

14,20153,216

139,311

374,464

485,727

566,181

660,665

876,849

1,002,935

Subjects

dbGaP – GWAS and PheGenI

dbGaP – GWAS and PheGenI

dbGaP – ClinVar

ClinVar

ClinVar

ClinVar – Why Should we Care?

ClinVar – Why Should we Care?

ClinVar – Why Should we Care?

ClinVar – Why Should we Care?

ClinVar – Why Should we Care?

Viral Genomes

Virus Variation

Virus Variation

Virus Variation

Subscribe!

Food Borne Pathogens

Food Borne Pathogens

Food Borne Pathogens

Where to Get More Information!

Data Science Training!

Combined score is the average of SVs, mappability, GC..

NCBI region list

Encode blacklist

DangerTrack!

In April, July, August and

October 2016

we built on

those projects .

Finding immunogenic peptides from single RNA-seq samples

Websearch!

47

EDirect (Search API) Cookbook

48

New APIs!

Variable Storage (and collaboration)!

Variable Storage (and collaboration)!

My View of Data Transfer Principles• Metadata Search

• Rapid NoSQL (for now)• Integration• Non-ambiguous identifiers

• Transferring Small amounts of Data• Data still gets transferred in the cloud• Underlying structure• Finding specific data from validated formats

• Democratization of Data• Rapid comparison by domain experts

• Reporting• Metrics to report data upload and [unique IP] download of datasets• Post-publication User Review