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1	
  
Perspec)ves	
  on	
  Linking	
  Interna)onally	
  –	
  Canada	
  and	
  IRIDA.ca	
  
	
  
	
  
Fiona	
  Brinkman	
  
Professor,  Department  of  Biochemistry  and  Molecular  Biology
Adjunct,  School  of  Compu>ng  Science,    
and  Faculty  of  Health  Sciences  
Simon  Fraser  University
Greater  Vancouver,  BC,  Canada

brinkman@sfu.ca          GenomeTrakr  -­‐  Sept  23  2015          @fionabrinkman
  
  Canada’s  Integrated  Rapid  Infec>ous  Disease  Analysis  
PlaTorm  for  Genomic  Epidemiology
	
  
 
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  Interac(ng	
  with,	
  
complemen(ng	
  others	
  
Interna(onal	
  resources	
  
	
  
	
  
Integrated	
  Rapid	
  Infec4ous	
  Disease	
  Analysis	
  informa4cs	
  pla;orm	
  	
  
suppor)ng	
  real-­‐)me	
  infec)ous	
  disease	
  outbreak	
  inves)ga)ons	
  
Goal	
  
Rich	
  genomic	
  
epi	
  analysis	
  
Public	
  health	
  
agencies	
  	
  
Rapid,	
  open	
  	
  
genomic	
  	
  
data	
  release	
  
Academia/Public
 
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
Genomics,	
  Epidemiology,	
  Clinical,	
  Lab	
  Data	
  	
  
	
  
	
  
	
  
	
  
	
  
Integrated	
  Rapid	
  Infec4ous	
  Disease	
  Analysis	
  informa4cs	
  pla;orm	
  	
  
suppor)ng	
  real-­‐)me	
  infec)ous	
  disease	
  outbreak	
  inves)ga)ons	
  
Goal	
  
 
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
User-­‐friendly,	
  web-­‐accessible	
  
	
  
User	
  access	
  control	
  (e.g.	
  public	
  health	
  workers	
  vs	
  public)	
  
	
  
Automated	
  assembly	
  pipelines,	
  	
  
Data	
  analysis	
  and	
  visualiza(on	
  	
  
	
  
Standards	
  compliant,	
  rich	
  ontologies	
  
	
  
Open	
  source	
  
	
  
	
  
	
  
Integrated	
  Rapid	
  Infec4ous	
  Disease	
  Analysis	
  informa4cs	
  pla;orm	
  	
  
suppor)ng	
  real-­‐)me	
  infec)ous	
  disease	
  outbreak	
  inves)ga)ons	
  
Goal	
  
National
Public Health Agency
Provincial
Public Health Agency
Academic/Public
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
	
  
Will Hsiao Fiona Brinkman
Gary Van Domselaar www.IRIDA.ca	
  
6	
  
Project Leaders
Fiona Brinkman – SFU
Will Hsiao – PHMRL
Gary Van Domselaar – NML
Simon Fraser University (SFU)
Emma Griffiths
Geoff Winsor
Julie Shay
Matthew Laird
Bhav Dhillon
McMaster University
Andrew McArthur
Daim Sardar
European Food Safety Agency
Leibana Criado Ernesto
Vernazza Francesco
Rizzi Valentina
IRIDA-mail@sfu.ca
National Microbiology Laboratory (NML)
Franklin Bristow
Aaron Petkau
Thomas Matthews
Josh Adam
Adam Olsen
Tara Lynch
Shaun Tyler
Philip Mabon
Philip Au
Celine Nadon
Matthew Stuart-Edwards
Morag Graham
Chrystal Berry
Lorelee Tschetter
Eduardo Toboada
Peter Kruczkiewicz
Chad Laing
Vic Gannon
Matthew Whiteside
Ross Duncan
Steven Mutschall
University of Lisbon
Joᾶo Carriҫo
European Bioinformatics Institute
Melanie Courtot
Helen Parkinson
BC Public Health Microbiology &
Reference Laboratory (PHMRL) and
BC Centre for Disease Control
(BCCDC)
Judy Isaac-Renton
Patrick Tang
Natalie Prystajecky
Jennifer Gardy
Linda Hoang
Kim MacDonald
Yin Chang
Eleni Galanis
Marsha Taylor
Damion Dooley
Jennifer Law
University of Maryland
Lynn Schriml
Canadian Food Inspection Agency
(CFIA)
Adam Koziol
Burton Blais
Catherine Carrillo
Dalhousie University
Rob Beiko
Alex Keddy
 	
  	
  	
  IRIDA	
  Design:	
  Carefully	
  designed	
  and	
  engineered	
  
soHware	
  plaIorm	
  is	
  just	
  the	
  star)ng	
  point…	
  
User	
  
Interface	
  
Security	
  
File	
  system	
  
Metadata	
  
Storage	
  
Applica)on	
  
logic	
  
REST	
  API	
  
Workflow	
  Execu)on	
  Manager	
  
Con)nuous	
  Integra)on	
   Documenta)on	
  
Federated database model
Addressing	
  ontology	
  gaps	
   Build	
  On,	
  Work	
  With:	
  
	
  
OBI	
  
TypON	
  	
  	
  	
  
NGSOnto	
  	
  	
  
NIAID-­‐GSC-­‐BRC	
  core	
  metadata	
  
MIxS	
  Ontology	
  	
  
NCBI	
  Biosample	
  etc	
  
TRANS	
  –	
  Pathogen	
  Transmission	
  
EPO	
  
Exposure	
  Ontology	
  
Infec)ous	
  Disease	
  Ontology	
  
CARD,	
  ARO	
  for	
  AMR	
  
USDA	
  Nutrient	
  DB	
  
EFSA	
  Comp.	
  Food	
  Consump.	
  DB	
  
	
  
	
  
Example	
  gaps	
  to	
  fill:	
  
	
  	
  
Improve	
  Food	
  	
  
ontologies,	
  	
  
AMR	
  data	
  
	
  
Ontology:	
  Describes	
  types	
  of	
  en((es	
  	
  
and	
  rela(ons	
  between	
  them	
  	
  
Analy)cal	
  
Tool	
  
Quality	
  Control	
  Module	
  
Quality	
  
Metrics	
  
Quality	
  
Control	
  
IRIDA’S	
  QA/QC	
  Model	
  
IRIDA	
  Workflows:	
  Portable	
  and	
  Transparent	
  Pipelines	
  
Use	
  Galaxy	
  as	
  workflow	
  
engine	
  	
  
	
  
Version	
  Controlled	
  Pipeline	
  
Templates	
  
	
  
	
  
1.	
  Input	
  
files,	
  
parameters	
  
sent	
  to	
  
Galaxy	
  	
  
3.	
  Results	
  
downloaded	
  
from	
  Galaxy	
  
IRIDA	
  UI/DB	
  
Galaxy	
  
Assembly	
  Tools	
  
Variant	
  Calling	
  Tools	
  
…	
  
REST	
  API	
  
Shared	
  File	
  System	
  
Worker	
   Worker	
  
2.	
  Tools	
  executed	
  
on	
  Galaxy	
  workers	
  
Example	
  data	
  analysis,	
  visualiza)on	
  tools	
  	
  
IslandViewer/GenomeD3Plot	
  –	
  more	
  flexible	
  GI/VF/AMR	
  	
  visualiza)on	
  
Dhillon	
  BK	
  et	
  al	
  2015	
  Nucl	
  Acids	
  Res	
  PMID:	
  25916842	
  
Laird	
  MR	
  et	
  al	
  2015	
  Bioinforma(cs	
  PMID:	
  26093150	
   www.pathogenomics.sfu.ca/islandviewer/
github.com/brinkmanlab/GenomeD3Plot/
 
“SNVPhyl”	
  SNV	
  analysis	
  	
  
Integra)ng	
  genomics,	
  geographic	
  data	
  
(led	
  by	
  NML,	
  Rob	
  Beiko,	
  Dalhousie	
  U)	
  	
  
http://kiwi.cs.dal.ca/GenGIS
SNVPhyl Software Demo by Aaron Petkau and
IRIDA poster by Emma Griffiths at #ASMNGS meeting
Example
data analysis,
visualization tools
Challenges	
  
	
  
…	
  for	
  IRIDA	
  
…	
  for	
  interna)onal	
  linkages	
  	
  
13	
  
Challenges	
  
	
  
…	
  for	
  IRIDA	
  
…	
  for	
  interna)onal	
  linkages	
  	
  
Biggest	
  challenge	
  is	
  NOT	
  	
  
bioinforma(cs/soPware	
  development	
  
	
  
14	
  
Challenges	
  
	
  
…	
  for	
  IRIDA	
  
…	
  for	
  interna)onal	
  linkages	
  	
  
Biggest	
  challenge	
  is	
  NOT	
  	
  
bioinforma(cs/soPware	
  development	
  
	
  
It’s	
  sharing	
  
	
  
15	
  
Canada’s	
  Public	
  Health	
  System	
  Challenges	
  
Provincial public
health dept.
National laboratory
Local public
health dept.
Provincial
laboratory
Cases
Physicians Frontline lab
	
  
	
  
	
  
	
  
	
  
	
  
	
  
Informa)on	
  
Bioinforma)cs	
  and	
  Analy)cal	
  
Capaci)es	
  
Info lost as aggregate data from Frontline lab to national PH labs
$ Disease
Reporting
Informa)on	
  Sharing	
  is	
  
Highly	
  Complex	
  
	
  
	
  
•  Variety	
  of	
  agreements,	
  legisla)on	
  
	
  
•  Lack	
  of	
  standards	
  	
  
(metadata,	
  legal	
  requirements)	
  
	
  
•  Fears	
  of	
  data	
  release	
  during	
  
ongoing	
  inves)ga)ons,	
  	
  
and	
  IP	
  concerns	
  	
  
make	
  provinces	
  “risk	
  averse”	
  
	
  
Impact	
  
•  Impacts	
  data	
  sharing	
  na)onally,	
  interna)onally	
  
	
  	
  
•  Also:	
  Lack	
  of	
  rich	
  example	
  data	
  impacts	
  ontology,	
  
data	
  standards	
  development	
  	
  
(ability	
  for	
  computers	
  to	
  share)	
  
	
  
Must	
  communicate	
  to	
  countries:	
  
Get	
  data	
  sharing	
  arranged	
  early	
  	
  
–	
  both	
  na(onally	
  and	
  interna(onally	
  
18	
  
Interna)onal	
  data	
  sharing	
  
-­‐  Get	
  data	
  sharing	
  arranged	
  early	
  
-­‐  Ensure	
  alloca(on	
  of	
  adequate	
  resources	
  to	
  set	
  it	
  up	
  	
  
	
  
-­‐  Share	
  bioinforma(cs	
  resources,	
  code,	
  parameters	
  
-­‐  Share	
  data	
  examples	
  
-­‐  Start	
  simple:	
  	
  
Agree	
  on	
  minimal	
  genome	
  metadata	
  for	
  rapid	
  release	
  
	
  
	
   19	
  
Interna)onal	
  data	
  sharing	
  Pt.	
  2	
  
-­‐	
  Develop	
  harmonized	
  metadata	
  for	
  further	
  data	
  release	
  
-­‐	
  Interoperable	
  systems	
  
-­‐	
  Current	
  and	
  well-­‐maintained	
  repositories	
  
-­‐	
  Valida4on	
  datasets	
  for	
  pipeline	
  calibra)on	
  
-­‐	
  User	
  access	
  control	
  
	
  	
  	
  	
  	
  Open	
  access	
  à	
  Opens	
  opportuni)es,	
  discoveries	
   20	
  
A new hope…
MLISA (Multilateral Information Sharing Agreement)
•  Canadian multi-jurisdictional legal agreement
•  Establishes standards re sharing, usage, disclosure and
protection of PH info for infectious diseases and PH events
•  Technical annexes (for example for WGS) can be developed to
clarify specifically data to be exchanged
PulseNet as a model for sharing (in part)
 	
  	
  	
  Can	
  USA–Canada	
  sharing	
  be	
  developed	
  as	
  a	
  model?	
  
Flight paths across North America. Outbreaks follow flight
paths more closely than simple geographic distance.
23	
  
IRIDA’s Role in International Data Sharing
1.  Application ontology for genomic epidemiology
2.  Metadata standardization
3.  Interoperability
4.  Sensitive field sharing secured via authorization
5.  Privacy protection and data security
6.  Compatible with International Health Regulations (2005)
7.  Aims to support federated design, plus open data sharing
24
Sharing	
  –	
  via	
  computers,	
  people	
  
	
  
Its	
  all	
  about	
  communica(on	
  
	
  
Computers	
  –	
  ontologies,	
  data	
  standards	
  are	
  key	
  
	
  
Humans	
  –	
  gemng	
  them	
  together	
  is	
  key…	
  
	
  
	
  
25
Sharing	
  –	
  via	
  computers,	
  people	
  
	
  
Its	
  all	
  about	
  communica(on	
  
	
  
Computers	
  –	
  ontologies,	
  data	
  standards	
  are	
  key	
  
	
  
Humans	
  –	
  gemng	
  them	
  together	
  is	
  key…	
  
	
  
	
  
Brinkman	
  Lab	
  Kayaking	
  Trip	
  
	
  
	
  
	
  
	
  
	
  
	
  	
  
Addi)onal	
  key	
  trainee	
  funding	
  and	
  compu)ng	
  infrastructure:	
  
We’re	
  hiring!	
  

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GenomeTrakr: Perspectives on linking internationally - Canada and IRIDA.ca

  • 1. 1   Perspec)ves  on  Linking  Interna)onally  –  Canada  and  IRIDA.ca       Fiona  Brinkman   Professor,  Department  of  Biochemistry  and  Molecular  Biology Adjunct,  School  of  Compu>ng  Science,     and  Faculty  of  Health  Sciences   Simon  Fraser  University Greater  Vancouver,  BC,  Canada brinkman@sfu.ca          GenomeTrakr  -­‐  Sept  23  2015          @fionabrinkman    Canada’s  Integrated  Rapid  Infec>ous  Disease  Analysis   PlaTorm  for  Genomic  Epidemiology  
  • 2.                            Interac(ng  with,   complemen(ng  others   Interna(onal  resources       Integrated  Rapid  Infec4ous  Disease  Analysis  informa4cs  pla;orm     suppor)ng  real-­‐)me  infec)ous  disease  outbreak  inves)ga)ons   Goal   Rich  genomic   epi  analysis   Public  health   agencies     Rapid,  open     genomic     data  release   Academia/Public
  • 3.                           Genomics,  Epidemiology,  Clinical,  Lab  Data               Integrated  Rapid  Infec4ous  Disease  Analysis  informa4cs  pla;orm     suppor)ng  real-­‐)me  infec)ous  disease  outbreak  inves)ga)ons   Goal  
  • 4.                             User-­‐friendly,  web-­‐accessible     User  access  control  (e.g.  public  health  workers  vs  public)     Automated  assembly  pipelines,     Data  analysis  and  visualiza(on       Standards  compliant,  rich  ontologies     Open  source         Integrated  Rapid  Infec4ous  Disease  Analysis  informa4cs  pla;orm     suppor)ng  real-­‐)me  infec)ous  disease  outbreak  inves)ga)ons   Goal  
  • 5. National Public Health Agency Provincial Public Health Agency Academic/Public                         Will Hsiao Fiona Brinkman Gary Van Domselaar www.IRIDA.ca  
  • 6. 6   Project Leaders Fiona Brinkman – SFU Will Hsiao – PHMRL Gary Van Domselaar – NML Simon Fraser University (SFU) Emma Griffiths Geoff Winsor Julie Shay Matthew Laird Bhav Dhillon McMaster University Andrew McArthur Daim Sardar European Food Safety Agency Leibana Criado Ernesto Vernazza Francesco Rizzi Valentina IRIDA-mail@sfu.ca National Microbiology Laboratory (NML) Franklin Bristow Aaron Petkau Thomas Matthews Josh Adam Adam Olsen Tara Lynch Shaun Tyler Philip Mabon Philip Au Celine Nadon Matthew Stuart-Edwards Morag Graham Chrystal Berry Lorelee Tschetter Eduardo Toboada Peter Kruczkiewicz Chad Laing Vic Gannon Matthew Whiteside Ross Duncan Steven Mutschall University of Lisbon Joᾶo Carriҫo European Bioinformatics Institute Melanie Courtot Helen Parkinson BC Public Health Microbiology & Reference Laboratory (PHMRL) and BC Centre for Disease Control (BCCDC) Judy Isaac-Renton Patrick Tang Natalie Prystajecky Jennifer Gardy Linda Hoang Kim MacDonald Yin Chang Eleni Galanis Marsha Taylor Damion Dooley Jennifer Law University of Maryland Lynn Schriml Canadian Food Inspection Agency (CFIA) Adam Koziol Burton Blais Catherine Carrillo Dalhousie University Rob Beiko Alex Keddy
  • 7.        IRIDA  Design:  Carefully  designed  and  engineered   soHware  plaIorm  is  just  the  star)ng  point…   User   Interface   Security   File  system   Metadata   Storage   Applica)on   logic   REST  API   Workflow  Execu)on  Manager   Con)nuous  Integra)on   Documenta)on   Federated database model
  • 8. Addressing  ontology  gaps   Build  On,  Work  With:     OBI   TypON         NGSOnto       NIAID-­‐GSC-­‐BRC  core  metadata   MIxS  Ontology     NCBI  Biosample  etc   TRANS  –  Pathogen  Transmission   EPO   Exposure  Ontology   Infec)ous  Disease  Ontology   CARD,  ARO  for  AMR   USDA  Nutrient  DB   EFSA  Comp.  Food  Consump.  DB       Example  gaps  to  fill:       Improve  Food     ontologies,     AMR  data     Ontology:  Describes  types  of  en((es     and  rela(ons  between  them    
  • 9. Analy)cal   Tool   Quality  Control  Module   Quality   Metrics   Quality   Control   IRIDA’S  QA/QC  Model  
  • 10. IRIDA  Workflows:  Portable  and  Transparent  Pipelines   Use  Galaxy  as  workflow   engine       Version  Controlled  Pipeline   Templates       1.  Input   files,   parameters   sent  to   Galaxy     3.  Results   downloaded   from  Galaxy   IRIDA  UI/DB   Galaxy   Assembly  Tools   Variant  Calling  Tools   …   REST  API   Shared  File  System   Worker   Worker   2.  Tools  executed   on  Galaxy  workers  
  • 11. Example  data  analysis,  visualiza)on  tools     IslandViewer/GenomeD3Plot  –  more  flexible  GI/VF/AMR    visualiza)on   Dhillon  BK  et  al  2015  Nucl  Acids  Res  PMID:  25916842   Laird  MR  et  al  2015  Bioinforma(cs  PMID:  26093150   www.pathogenomics.sfu.ca/islandviewer/ github.com/brinkmanlab/GenomeD3Plot/
  • 12.   “SNVPhyl”  SNV  analysis     Integra)ng  genomics,  geographic  data   (led  by  NML,  Rob  Beiko,  Dalhousie  U)     http://kiwi.cs.dal.ca/GenGIS SNVPhyl Software Demo by Aaron Petkau and IRIDA poster by Emma Griffiths at #ASMNGS meeting Example data analysis, visualization tools
  • 13. Challenges     …  for  IRIDA   …  for  interna)onal  linkages     13  
  • 14. Challenges     …  for  IRIDA   …  for  interna)onal  linkages     Biggest  challenge  is  NOT     bioinforma(cs/soPware  development     14  
  • 15. Challenges     …  for  IRIDA   …  for  interna)onal  linkages     Biggest  challenge  is  NOT     bioinforma(cs/soPware  development     It’s  sharing     15  
  • 16. Canada’s  Public  Health  System  Challenges   Provincial public health dept. National laboratory Local public health dept. Provincial laboratory Cases Physicians Frontline lab               Informa)on   Bioinforma)cs  and  Analy)cal   Capaci)es   Info lost as aggregate data from Frontline lab to national PH labs
  • 17. $ Disease Reporting Informa)on  Sharing  is   Highly  Complex       •  Variety  of  agreements,  legisla)on     •  Lack  of  standards     (metadata,  legal  requirements)     •  Fears  of  data  release  during   ongoing  inves)ga)ons,     and  IP  concerns     make  provinces  “risk  averse”    
  • 18. Impact   •  Impacts  data  sharing  na)onally,  interna)onally       •  Also:  Lack  of  rich  example  data  impacts  ontology,   data  standards  development     (ability  for  computers  to  share)     Must  communicate  to  countries:   Get  data  sharing  arranged  early     –  both  na(onally  and  interna(onally   18  
  • 19. Interna)onal  data  sharing   -­‐  Get  data  sharing  arranged  early   -­‐  Ensure  alloca(on  of  adequate  resources  to  set  it  up       -­‐  Share  bioinforma(cs  resources,  code,  parameters   -­‐  Share  data  examples   -­‐  Start  simple:     Agree  on  minimal  genome  metadata  for  rapid  release       19  
  • 20. Interna)onal  data  sharing  Pt.  2   -­‐  Develop  harmonized  metadata  for  further  data  release   -­‐  Interoperable  systems   -­‐  Current  and  well-­‐maintained  repositories   -­‐  Valida4on  datasets  for  pipeline  calibra)on   -­‐  User  access  control            Open  access  à  Opens  opportuni)es,  discoveries   20  
  • 21. A new hope… MLISA (Multilateral Information Sharing Agreement) •  Canadian multi-jurisdictional legal agreement •  Establishes standards re sharing, usage, disclosure and protection of PH info for infectious diseases and PH events •  Technical annexes (for example for WGS) can be developed to clarify specifically data to be exchanged PulseNet as a model for sharing (in part)
  • 22.        Can  USA–Canada  sharing  be  developed  as  a  model?   Flight paths across North America. Outbreaks follow flight paths more closely than simple geographic distance.
  • 23. 23   IRIDA’s Role in International Data Sharing 1.  Application ontology for genomic epidemiology 2.  Metadata standardization 3.  Interoperability 4.  Sensitive field sharing secured via authorization 5.  Privacy protection and data security 6.  Compatible with International Health Regulations (2005) 7.  Aims to support federated design, plus open data sharing
  • 24. 24 Sharing  –  via  computers,  people     Its  all  about  communica(on     Computers  –  ontologies,  data  standards  are  key     Humans  –  gemng  them  together  is  key…      
  • 25. 25 Sharing  –  via  computers,  people     Its  all  about  communica(on     Computers  –  ontologies,  data  standards  are  key     Humans  –  gemng  them  together  is  key…      
  • 26. Brinkman  Lab  Kayaking  Trip                 Addi)onal  key  trainee  funding  and  compu)ng  infrastructure:   We’re  hiring!  
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