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Can massively parallel DNA sequencing paired with ubiquitous utility computing save the world? Will Spooner, CTO, Founder, Eagle Genomics Ltd [email protected] Image: http://grayninja93.deviantart.com/art/Glow-125681900 CC-BY-NC-ND 3.0

Could genomics (plus NGS/Cloud) save the world?

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Slides from a talk at University of East Anglia (6th December 2011) looking at the recent advances in high-throughput genomics, and how these can be applied 'big issues' such as food security and disease. Particular attention is paid to the role of open science in reacting to critical situation.- Will Spooner, CTO.

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Page 1: Could genomics (plus NGS/Cloud) save the world?

Can massively parallel

DNA sequencing paired with

ubiquitous utility computing save the world?

Will Spooner, CTO, Founder, Eagle Genomics Ltd [email protected]

Image: http://grayninja93.deviantart.com/art/Glow-125681900 CC-BY-NC-ND 3.0

Page 2: Could genomics (plus NGS/Cloud) save the world?

Famine Disease

Image: A. Cavanagh http://images.wellcome.ac.uk/ CC-BY-ND 2.0

Image: http://transformergirl.deviantart.com/art/Famine-257996482 CC-BY-NC-ND 2.0

Page 3: Could genomics (plus NGS/Cloud) save the world?

Image http://widescreenwallpapers.org/earth-wallpapers.html CC-BY-NC-ND 3.0

SyntheticLife

Gaia

Image http://ginosblog.com/2010/06/03/100-synthetic-life-is-a-babystep-away/ CC-BY-NC-SA

Page 4: Could genomics (plus NGS/Cloud) save the world?

Molecular Psychiatry advance online publication 30 August 2011; doi:10.1038/mp.2011.101

Scientific impact of genomics

Image: Sartr http://sartr.deviantart.com/gallery/?offset=96#/d1u0z75 CC BY-NC-ND 3.0

Phen

otyp

e As

soci

ation

Page 5: Could genomics (plus NGS/Cloud) save the world?

Genomics in plant breedingGermplasm/Pedigree

Phenotype/Genotype association

Phenotype Genotype

GenotypingPhenotyping

Assays

Breeding

Page 6: Could genomics (plus NGS/Cloud) save the world?

PhenotypicAssociation[biomarker]

Stratified Medicine

Right drug

Right patient

Right time

Pharmacogenomics

Genotypic

Transcriptomic

Epigenetic

Genomics in pharmacology

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Page 7: Could genomics (plus NGS/Cloud) save the world?

Genetic DeterminismVs.

Missing Heritability

Image:

Image: http://grayninja93.deviantart.com/art/Armageddon-128461009 CC-BY-NC-ND 3.0

Page 8: Could genomics (plus NGS/Cloud) save the world?

NGS - democratising genomics

$1000 genome~$0.01 Mbase (30x coverage)

Page 9: Could genomics (plus NGS/Cloud) save the world?

The Cost of Big Data

Now Soon

Page 10: Could genomics (plus NGS/Cloud) save the world?

Image: PictureGirl http://pixdaus.com/single.php?id=256700 CC-BY-SA

Cloud Computing = Greater ScalabilityCloud Computing = Lower Cost

+ Greater agility+ More flexibility+ Faster time to market+ Improved business process

TSB project – “Cloud Analytics for the Life Sciences”• Eagle Genomics • University of Manchester• NGRL

Page 11: Could genomics (plus NGS/Cloud) save the world?

30,000 virtual Cores$1,300/HOUR

Cloud – democratising HPC

Page 12: Could genomics (plus NGS/Cloud) save the world?

Technological Divergence

Page 13: Could genomics (plus NGS/Cloud) save the world?

KnowledgeOpen Innovation

PublicationsOpen Access

MethodsOpen Source

ResultsOpen Data

Page 14: Could genomics (plus NGS/Cloud) save the world?

Doing Genomics Efficiently

• “Genome Content Management is the set of processes and technologies that support the creating, managing, and reporting of genomic data.”

Create

Man

ag

e

Report

Create

Report

Ext

end

Manage

Share

Reuse

TIMELINE: Bespoke……...Common Models……………Content Management Systems

Page 15: Could genomics (plus NGS/Cloud) save the world?

Genome Content Management Systems (G-CMS)

Wor

kflow

Orie

nted

Database O

riented

Open Source Proprietary

Page 16: Could genomics (plus NGS/Cloud) save the world?

Ensembl as a GCMS

Comparative Genomics

Functional Genomics

Variation

Assembly/GenesData Integration

Data Reporting

Data Analysis

Data Integration

Data Querying

Data QC

API

Leveraging Public Resources

Page 17: Could genomics (plus NGS/Cloud) save the world?

Genomics in research productivity

Apoptotic execution Phase

Page 18: Could genomics (plus NGS/Cloud) save the world?

Plant models for phytopharmacology

Image By: G. Nicolella http://luirig.altervista.org/cpm/albums/bot-002/normal_medicago-truncatula3637.jpg CC BY SA

Physcomitrella patens

Image By: Ralf Reski CC BY-ND

Page 19: Could genomics (plus NGS/Cloud) save the world?

Open Innovation

ExploreWork together to find a commonpurpose

NurtureBuild trust, shared language

ExploitTurn ideas intotangible benefits

CollaborateEnterpriseAcademiaGovernmentFoundations

©

Page 20: Could genomics (plus NGS/Cloud) save the world?
Page 21: Could genomics (plus NGS/Cloud) save the world?

Collaborative Data Sharing Platform

Users

Customer 1

Sequ

ence

Ser

vice

Asset Layer

User Interaction Layer web terminal

Scientist Admin

Business LayerUser/Role

Management Data

ManagementApplication

ManagementSystem

MonitoringReporting/

Billing

Customer 1

Apps

Clusters

Data Files

Customer 2Depositor

Customer 3Collaborator

Customer 2

Data Files

Customer 3

Apps

Data Files

Servers Servers

Secu

rity

Laye

r

Public

Data Files

Apps

Page 22: Could genomics (plus NGS/Cloud) save the world?

Am

azon

EC2

Clo

ud

Customer SandboxEC2/AMIs

Condor

Ensembl

BioLinux

Open Architecture – Open Source

Gateway OpenAM Plugin

Web Server SEEKCycleCloud

MySQL SEEK Assets DB

Scientist Admin Depositor

OpenAM Server

OpenAM IdP (LDAP)

Customer IdP

SAM

LAu

then

ticat

e

Customer SandboxS3 Storage

Data FiData Fi

Data Files

Customer SandboxS3 Storage

Data FiData Fi

Data Files

CycleServer

Customer SandboxEC2/AMIs

Condor

Ensembl

BioLinux

HTTPSWeb

Auth

oris

e

Encrypt/Decrypt

SAML

Token Exchange

HTTPSWeb

HTTPSWeb

Page 23: Could genomics (plus NGS/Cloud) save the world?

Eagle Academic Collaborations

Page 24: Could genomics (plus NGS/Cloud) save the world?

Can genomics save the world?

• Genomics is revolutionising:– Basic research, – Plant breeding, – Healthcare.

• Genomics R&D is empowered by:– NGS, – Cloud computing,

• Collaboration is key– Open knowledge/science,– Public datasets,– Open innovation.

Page 25: Could genomics (plus NGS/Cloud) save the world?

–In under a month (June 2011);• 10 e coli isolates sequenced,• 9 genome assemblies released,• 16 genome annotations released,•Over 50 analyses performed,• Resulting in 12 citable publications

Page 26: Could genomics (plus NGS/Cloud) save the world?

Eagle Genomics

Genome Content ManagementIntegrated, Analysed, Validated,

Except where otherwise noted, this work is licensed under the Creative Commons Attribution 3.0 License

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