Introducing BCCDC and Public Health Microbiology (PHM)
Current State of PHM
Sequence Technology Advancement -> revolution of PHM
Genomic Epidemiology
Amount of Sequence Data Produced
Need to Process the data – Introduction to IRIDA
Need of Metadata and Ontology
Software to improve data sharing
How research microbiology and PHM can joint effort
IMMEM XI: Ten Simple Rules to Build a Better Public Health Genomic Epidemiolo...William Hsiao
In this presentation, I provided 10 simple rules to build a better public health genomic epidemiology analysis platform. I encourage people to adopt some of these rules to make their applications more accessible and more useful to the public health agencies.
GenomeTrakr: Perspectives on linking internationally - Canada and IRIDA.cafionabrinkman
Talk at GenomeTrakr network meeting Sept 23 2015 in Washington DC. On Canada's open source Integrated Rapid Infectious Disease Analysis (IRIDA) bioinformatics platform - aiding genomic epidemiology analysis for public health agencies with planned open data release and linkage to GenomeTrakr. Discussed perspectives, challenges, solutions for getting more GenomeTrakr participation internationally.
Improving Disease Surveillance in the United States Using Companion Animal DataPamela Okerholm
This poster was created for the Engineered Solutions course in partial fulfillment of the MS in Conservation Medicine program at the Cummings School of Veterinary Medicine at Tufts. It describes the "Veterinary Health Event Reporter" as a proposed technological solution to improving data sharing between agencies involved with zoonotic disease outbreaks.
IMMEM XI: Ten Simple Rules to Build a Better Public Health Genomic Epidemiolo...William Hsiao
In this presentation, I provided 10 simple rules to build a better public health genomic epidemiology analysis platform. I encourage people to adopt some of these rules to make their applications more accessible and more useful to the public health agencies.
GenomeTrakr: Perspectives on linking internationally - Canada and IRIDA.cafionabrinkman
Talk at GenomeTrakr network meeting Sept 23 2015 in Washington DC. On Canada's open source Integrated Rapid Infectious Disease Analysis (IRIDA) bioinformatics platform - aiding genomic epidemiology analysis for public health agencies with planned open data release and linkage to GenomeTrakr. Discussed perspectives, challenges, solutions for getting more GenomeTrakr participation internationally.
Improving Disease Surveillance in the United States Using Companion Animal DataPamela Okerholm
This poster was created for the Engineered Solutions course in partial fulfillment of the MS in Conservation Medicine program at the Cummings School of Veterinary Medicine at Tufts. It describes the "Veterinary Health Event Reporter" as a proposed technological solution to improving data sharing between agencies involved with zoonotic disease outbreaks.
160929 teamscope presentation molecule to businessSMBBV
Teamscope; mHealth, a paradigm shift in clinical reseach. Presentation by Diego Mechaca during 'From Molecule to Business' event by SMB Life Sciences and Health Valley at NovioTechCampus, Nijmegen, The Netherlands on September 29, 2016.
Health Information Technology for Disease Surveillance & Response: H7N9 as ...Jen-Hsiang Chuang
I will introduce the applications of information technology for disease surveillance & response in Chinese Taipei and use H7N9 as an example for illustration.
The 10th Annual Utah Health Services Research Conference: Data Quality in Multi-Site Health Services and Comparative Effectiveness Research: Lessons from PHIS+ By: Ram Gouripeddi
Health Services Research Conference: March 16, 2015
Patient Centered Research Methods Core, University of Utah, CCTS
Leveraging Text Classification Strategies for Clinical and Public Health Appl...Karin Verspoor
Human-generated text is a critical component of recorded clinical data, yet remains an under-utilised resource in clinical informatics applications due to minimal standards for sharing of unstructured data as well as concerns about patient privacy. Where we can access and analyse clinical text, we find that it provides a hugely valuable resource. In this talk, I will describe two projects where we have used text classification as the basis for addressing a clinical objective: (1) a syndromic surveillance project where the task is the monitoring of health and social media data sources for changes that indicate the onset of disease outbreaks, and (2) the analysis of hospital records to enable retrieval of specific disease cases, for monitoring of the hospital case mix as well as for construction of patient cohorts for clinical research studies. I will end by briefly discussing the huge potential for clinical text analysis to support changing the way modern medicine is practised.
Identifying Drug Interaction Candidates in Real-World DataNeo4j
Speakers: Kathleen Mandziuk, Vice President, Patient Strategy and Digital Health, PRA HealthSciences
Nathan Smith, Senior Principal Data Scientist, PRA HealthSciences
Kerry Deem, Associate Director, Programming, PRA HealthSciences
Mining Online Communities and Social Networks for Safety SignalsPerficient, Inc.
Online communities and social networks like Twitter and Facebook have become important real-world data repositories that can be leveraged by life sciences organizations to gain insight into the patient experience, as well as to identify potential safety issues related to drugs and devices – otherwise known as safety signal detection.
Perficient’s director of safety and pharmacovigilance, Dr. Rodney Lemery, discussed the methods, benefits, and challenges involved with mining real-world data for adverse event drug reactions and other safety signals.
Disease Network is the science that has emerged to diagnose a disease from a network aspect
specifically. Networks are the group that interconnect to each others similarly disease networks are
the one that reveal concelled connection among apparently independent biomedical entities like
physiologic process, signaling receptors, in addition to genetic code, also they prove to exists
intitutive in addition to powerful way to learn/discover or diagnose a disease.Due to these networks,
we can now consume the elderly drugs and its method to learn/discover the new drug
accordingly.Example- Colchicine is used in gout but after repurposing it is also used in mediterranean
fever. This is because there are many factors that affect the body during mediterranean fever and
gout, we know that gout is a form of arthritis that causes pain in joints also mediterranean fever is the
one which is accompanied by pain in joints, therefore colchicine is used as a repurposed drug again.In
repurposing of medicines or drugs we first analyse the change in symptoms and identify the target
organ and accorgingly we produce a drug that is compatible with pharmacokinetics of the body. As
the availablity of transcriptomic,proteomic and metabolomic data sources are increasing day by day it helps in classification of disease .Also there are some networks reffered to as complex networks which can be called as collection of linked junctions/ nodes
Atlas of Environmental Health - Indo-Pacific Centre for Health Securitypiers_higgs
This is a slide deck prepared for workshops with the Indo-Pacific Centre for health Security in November, 2018. It introduces the Atlas of Environmental Health and suggests how it could be used to assist the management of mosquitoes, and mosquito borne diseases, in the Indo-Pacific region.
GenomeTrakr: Whole-Genome Sequencing for Food Safety and A New Way Forward in...ExternalEvents
http://www.fao.org/about/meetings/wgs-on-food-safety-management/en/
GenomeTrakr: Whole-Genome Sequencing for Food Safety and A New Way Forward in the Microbiological Testing & Traceability for Foodborne Pathogens. Presentation from the Technical Meeting on the impact of Whole Genome Sequencing (WGS) on food safety management -23-25 May 2016, Rome, Italy.
160929 teamscope presentation molecule to businessSMBBV
Teamscope; mHealth, a paradigm shift in clinical reseach. Presentation by Diego Mechaca during 'From Molecule to Business' event by SMB Life Sciences and Health Valley at NovioTechCampus, Nijmegen, The Netherlands on September 29, 2016.
Health Information Technology for Disease Surveillance & Response: H7N9 as ...Jen-Hsiang Chuang
I will introduce the applications of information technology for disease surveillance & response in Chinese Taipei and use H7N9 as an example for illustration.
The 10th Annual Utah Health Services Research Conference: Data Quality in Multi-Site Health Services and Comparative Effectiveness Research: Lessons from PHIS+ By: Ram Gouripeddi
Health Services Research Conference: March 16, 2015
Patient Centered Research Methods Core, University of Utah, CCTS
Leveraging Text Classification Strategies for Clinical and Public Health Appl...Karin Verspoor
Human-generated text is a critical component of recorded clinical data, yet remains an under-utilised resource in clinical informatics applications due to minimal standards for sharing of unstructured data as well as concerns about patient privacy. Where we can access and analyse clinical text, we find that it provides a hugely valuable resource. In this talk, I will describe two projects where we have used text classification as the basis for addressing a clinical objective: (1) a syndromic surveillance project where the task is the monitoring of health and social media data sources for changes that indicate the onset of disease outbreaks, and (2) the analysis of hospital records to enable retrieval of specific disease cases, for monitoring of the hospital case mix as well as for construction of patient cohorts for clinical research studies. I will end by briefly discussing the huge potential for clinical text analysis to support changing the way modern medicine is practised.
Identifying Drug Interaction Candidates in Real-World DataNeo4j
Speakers: Kathleen Mandziuk, Vice President, Patient Strategy and Digital Health, PRA HealthSciences
Nathan Smith, Senior Principal Data Scientist, PRA HealthSciences
Kerry Deem, Associate Director, Programming, PRA HealthSciences
Mining Online Communities and Social Networks for Safety SignalsPerficient, Inc.
Online communities and social networks like Twitter and Facebook have become important real-world data repositories that can be leveraged by life sciences organizations to gain insight into the patient experience, as well as to identify potential safety issues related to drugs and devices – otherwise known as safety signal detection.
Perficient’s director of safety and pharmacovigilance, Dr. Rodney Lemery, discussed the methods, benefits, and challenges involved with mining real-world data for adverse event drug reactions and other safety signals.
Disease Network is the science that has emerged to diagnose a disease from a network aspect
specifically. Networks are the group that interconnect to each others similarly disease networks are
the one that reveal concelled connection among apparently independent biomedical entities like
physiologic process, signaling receptors, in addition to genetic code, also they prove to exists
intitutive in addition to powerful way to learn/discover or diagnose a disease.Due to these networks,
we can now consume the elderly drugs and its method to learn/discover the new drug
accordingly.Example- Colchicine is used in gout but after repurposing it is also used in mediterranean
fever. This is because there are many factors that affect the body during mediterranean fever and
gout, we know that gout is a form of arthritis that causes pain in joints also mediterranean fever is the
one which is accompanied by pain in joints, therefore colchicine is used as a repurposed drug again.In
repurposing of medicines or drugs we first analyse the change in symptoms and identify the target
organ and accorgingly we produce a drug that is compatible with pharmacokinetics of the body. As
the availablity of transcriptomic,proteomic and metabolomic data sources are increasing day by day it helps in classification of disease .Also there are some networks reffered to as complex networks which can be called as collection of linked junctions/ nodes
Atlas of Environmental Health - Indo-Pacific Centre for Health Securitypiers_higgs
This is a slide deck prepared for workshops with the Indo-Pacific Centre for health Security in November, 2018. It introduces the Atlas of Environmental Health and suggests how it could be used to assist the management of mosquitoes, and mosquito borne diseases, in the Indo-Pacific region.
GenomeTrakr: Whole-Genome Sequencing for Food Safety and A New Way Forward in...ExternalEvents
http://www.fao.org/about/meetings/wgs-on-food-safety-management/en/
GenomeTrakr: Whole-Genome Sequencing for Food Safety and A New Way Forward in the Microbiological Testing & Traceability for Foodborne Pathogens. Presentation from the Technical Meeting on the impact of Whole Genome Sequencing (WGS) on food safety management -23-25 May 2016, Rome, Italy.
The Human Variome Database in Australia in 2014 - Graham TaylorHuman Variome Project
There are a number of genetics and genomics initiatives underway in Australia, including the Australian node of the Human Variome Project (HVPA), as well as many active research collaborations including familial cancer, endocrine disease, and developmental delay. Most of these projects work with disease-specific databases on a research basis, with the risk that such archives may be ephemeral. HVPA is the only database that is directly integrated with accredited clinical reporting of variants. As such it is designed to capture variants that have passed scrutiny as diagnostically robust, and have therefore already been curated by qualified staff. Registered users access the HVPA database via a secure Internet portal.
I will describe three recent developments of the HVPA database and portal: the upgraded search interface, linkage to other datasets via BioGrid using hash-based de-identified case matching, and the introduction of a genome wide database using LOVD3. Finally I will discuss the future direction of the HVPA and the questions of utility, quality control and sustainability of genetic variation databases.
Search interface
The search interface has to provide useful tools for clinicians and lab scientists so that the HPVA project offers them direct benefits and incentivises them to participate. Following a request for feedback from users, a series of improvements were implemented, initially on a demonstration server and then on the live server following review by the Steering Committee. The highest priorities were for more information about numbers of times particular variants were
recorded, the ability to search by range and to filter by pathogenicity. There was also interest in enabling direct uploading of VCF files and the automated calculation of pathogenicity scores. Many of these features are now implemented and examples will be presented.
Linkage to other datasets
We have implemented the hash key algorithm and work is in progress with BioGrid to link variation data to clinical data sets.
Genome wide database
We have established an HVPA LOVD3 database and are working with the Human Genetics Society of Australasia on a pilot study to sequence the exomes of two trios and review the data using this database.
Genome sharing projects around the world nijmegen oct 29 - 2015Fiona Nielsen
Genome sharing projects across the world
Did you ever wonder what happened to the exponential increase in genome sequencing data? It is out there around the world and a lot of it is consented for research use. This means that if you just know where to find the data, you can potentially analyse gigabytes of data to power your research.
In this talk Fiona will present community genome initiatives, the genome sharing projects across the world, how you can benefit from this wealth of data in your work, and how you can boost your academic career by sharing and collaboration.
by Fiona Nielsen, Founder and CEO of DNAdigest and Repositive
With a background in software development Fiona pursued her career in bioinformatics research at Radboud University Nijmegen. Now a scientist-turned-entrepreneur Fiona founded DNAdigest and its social enterprise spin-out Repositive Ltd. Both the charity and company focus on efficient and ethical sharing of genetics data for research to accelerate diagnostics and cures for genetic diseases.
Clinical trial data wants to be free: Lessons from the ImmPort Immunology Dat...Barry Smith
Presentation to the Clinical and Research Ethics Seminar, Clinical and Translational Science Center, Buffalo, January 21, 2014
https://immport.niaid.nih.gov/
http://youtu.be/booqxkpvJMg
An overview of genomic epidemiology, Canada's IRIDA project for genome-based outbreak investigation, and a breathless romp through the awesome potential of the MinION
Beating Bugs with Big Data: Harnessing HPC to Realize the Potential of Genomi...Tom Connor
Introducing the HPC challenges associated with developing a set of clinical microbial genomics services in the NHS in Wales. Demonstrating the potential of these technologies, and the impact it is already having for the patients of the Welsh NHS.
Workshop finding and accessing data - fiona - lunteren april 18 2016Fiona Nielsen
Workshop presentation on finding and accessing human genomics data for research.
Including statistics of publicly available data sources and tips on how to save time in your workflow of data access.
Presented at BioSB2016, pre-conference PhD retreat for young researchers in bioinformatics and systems biology at Congrescentrum De Werelt in Lunteren. #BioSB2016 #BioSB16
Link to event:
http://www.youngcb.nl/events/biosb-phd-retreat-2016/
Read more about my work:
http://DNAdigest.org
http://repositive.io
https://uk.linkedin.com/in/fionanielsen
Informatics for Disease Surveillance – New TechnologiesDr Wasim Ahmed
A guest lecture on informatics for disease surveillance, looking at a number of new new technologies. Delivered at the School of Health and Related Research.
International Cancer Survivors Day is celebrated during June, placing the spotlight not only on cancer survivors, but also their caregivers.
CANSA has compiled a list of tips and guidelines of support:
https://cansa.org.za/who-cares-for-cancer-patients-caregivers/
CHAPTER 1 SEMESTER V PREVENTIVE-PEDIATRICS.pdfSachin Sharma
This content provides an overview of preventive pediatrics. It defines preventive pediatrics as preventing disease and promoting children's physical, mental, and social well-being to achieve positive health. It discusses antenatal, postnatal, and social preventive pediatrics. It also covers various child health programs like immunization, breastfeeding, ICDS, and the roles of organizations like WHO, UNICEF, and nurses in preventive pediatrics.
Medical Technology Tackles New Health Care Demand - Research Report - March 2...pchutichetpong
M Capital Group (“MCG”) predicts that with, against, despite, and even without the global pandemic, the medical technology (MedTech) industry shows signs of continuous healthy growth, driven by smaller, faster, and cheaper devices, growing demand for home-based applications, technological innovation, strategic acquisitions, investments, and SPAC listings. MCG predicts that this should reflects itself in annual growth of over 6%, well beyond 2028.
According to Chris Mouchabhani, Managing Partner at M Capital Group, “Despite all economic scenarios that one may consider, beyond overall economic shocks, medical technology should remain one of the most promising and robust sectors over the short to medium term and well beyond 2028.”
There is a movement towards home-based care for the elderly, next generation scanning and MRI devices, wearable technology, artificial intelligence incorporation, and online connectivity. Experts also see a focus on predictive, preventive, personalized, participatory, and precision medicine, with rising levels of integration of home care and technological innovation.
The average cost of treatment has been rising across the board, creating additional financial burdens to governments, healthcare providers and insurance companies. According to MCG, cost-per-inpatient-stay in the United States alone rose on average annually by over 13% between 2014 to 2021, leading MedTech to focus research efforts on optimized medical equipment at lower price points, whilst emphasizing portability and ease of use. Namely, 46% of the 1,008 medical technology companies in the 2021 MedTech Innovator (“MTI”) database are focusing on prevention, wellness, detection, or diagnosis, signaling a clear push for preventive care to also tackle costs.
In addition, there has also been a lasting impact on consumer and medical demand for home care, supported by the pandemic. Lockdowns, closure of care facilities, and healthcare systems subjected to capacity pressure, accelerated demand away from traditional inpatient care. Now, outpatient care solutions are driving industry production, with nearly 70% of recent diagnostics start-up companies producing products in areas such as ambulatory clinics, at-home care, and self-administered diagnostics.
Trauma Outpatient Center is a comprehensive facility dedicated to addressing mental health challenges and providing medication-assisted treatment. We offer a diverse range of services aimed at assisting individuals in overcoming addiction, mental health disorders, and related obstacles. Our team consists of seasoned professionals who are both experienced and compassionate, committed to delivering the highest standard of care to our clients. By utilizing evidence-based treatment methods, we strive to help our clients achieve their goals and lead healthier, more fulfilling lives.
Our mission is to provide a safe and supportive environment where our clients can receive the highest quality of care. We are dedicated to assisting our clients in reaching their objectives and improving their overall well-being. We prioritize our clients' needs and individualize treatment plans to ensure they receive tailored care. Our approach is rooted in evidence-based practices proven effective in treating addiction and mental health disorders.
The Importance of Community Nursing Care.pdfAD Healthcare
NDIS and Community 24/7 Nursing Care is a specific type of support that may be provided under the NDIS for individuals with complex medical needs who require ongoing nursing care in a community setting, such as their home or a supported accommodation facility.
Deep Leg Vein Thrombosis (DVT): Meaning, Causes, Symptoms, Treatment, and Mor...The Lifesciences Magazine
Deep Leg Vein Thrombosis occurs when a blood clot forms in one or more of the deep veins in the legs. These clots can impede blood flow, leading to severe complications.
PET CT beginners Guide covers some of the underrepresented topics in PET CTMiadAlsulami
This lecture briefly covers some of the underrepresented topics in Molecular imaging with cases , such as:
- Primary pleural tumors and pleural metastases.
- Distinguishing between MPM and Talc Pleurodesis.
- Urological tumors.
- The role of FDG PET in NET.
IRIDA: A Federated Bioinformatics Platform Enabling Richer Genomic Epidemiology Analysis in Public Health
1. IRIDA: A federated bioinformatics
platform enabling richer genomic
epidemiology analysis in public health
William Hsiao, Ph.D.
William.hsiao@bccdc.ca
@wlhsiao
BC Centre for Disease Control Public Health Laboratory
and University of British Columbia
March 21 2016, UT San Antonio
2.
3. Roles of Public Health Agencies
• Public Health (PH) agencies around the world track and intervene the
spread of diseases to improve health of the population
• PH agencies also come up with policies and strategies to prevent
diseases from occurring
• PH laboratories test patient and environmental samples and
determine the cause of diseases
• At the BC Public Health Lab, we process on average, 3,000 samples a
day or about 1 million samples a year.
4. Dual Arms of a Public Health Agency
What did you
eat? Where
did you eat
that? When?
What strain of
Salmonella
Enteritidis is it?
Epidemiological
Investigation
Laboratory
Investigation
Identify common exposure
Identify the culprit pathogen
Confirmed
by Epi
Confirmed
by Lab
5. Current State of Clinical Microbiology Laboratory
Didelot et al. 2012. doi:10.1038/nrg3226.
• Culture to isolate
organisms using
different media
• Different
diagnostic tests
and typing and
subtyping
methods
• Different drug
sensitivity tests
6. Current Methods of Characterizing Foodborne
Pathogens in a Public Health Laboratory
• Growth characteristics
• Phenotypic panels
• Agglutination reactions
• Enzyme immuno assays (EIAs)
• PCR
• DNA arrays (hybridization)
• Sanger sequencing of marker genes
• DNA restriction
• Electrophoresis (PFGE, capillary)
Each pathogen is characterized by methods that are specific to that pathogen in
multiple workflows (separate workflows for each pathogen) TAT: 5 min – weeks
(months)
Source: Rebecca Lindsey
7. • Many incompatible
systems
• Paper and Fax
communication
common
• Rich case
information
conveyed verbally
or in free text
• Require data re-
entry and re-coding
National Ministry of
Health
Provincial / State
public health dept.
National laboratory
Local public
health dept.
Provincial /
State laboratory
Cases
Physicians Local laboratory
Fax/Electronic
Fax
Phone/Fax
Electronic/Paper
Electronic/Fax/Phone
Mailing of
Samples/Fax/Eelctronic
Source: M. Taylor, BCCDC
Current State of Public Health Epidemiology
8. The Era of Molecular Epidemiology
• Molecular test results are often more specific and sensitive than
traditional phenotypical or biochemical tests
• These biomarkers can be correlated to epidemiological investigations
(People, Place, Time)
• Provides linkage based on common exposure to the same pathogen
at the molecular level
BUT….
• Most tests detect one or a few of specific biomarkers, representing a
fraction of the pathogens’ genetic information
• As pathogens evolve, targeted tests can lose their specificity
9. Era of Whole Genome Sequencing (WGS) =
lots of High Quality Data
• Capture the pathogen’s entire genetic makeup
• Unbiased (~97-99+% of the genome captured using common sequencing approaches)
• Significantly more data than traditional methods
• Allow higher resolution and higher sensitivity analysis to be applied
• Allow value-added
evolutionary & Functional
study of the pathogens
• Virulence factors
• AMR genes
• These genomics data can be useful
for downstream research use (e.g.
comparative genomics)
10. NGS Reduces Sequencing Cost allowing PHM Sequencing
$10K per human genome or $10
per bacterial genome
$100M per human genome
11. Whole Genome Sequencing of Foodborne Pathogens
• UK Public Health England committed to sequence all the Salmonella
isolates submitted to PH Lab
• US FDA and CDC (supported by National Center for Biotechnology
Information) created a distributed network of labs to utilize WGS for
pathogen identification
https://publichealthmatters.blog.gov.uk/2014/01/20/innovations-in-genomic-sequencing/
http://www.fda.gov/Food/FoodScienceResearch/WholeGenomeSequencingProgramWGS/ucm363134.htm
12. PulseNet Canada
• Part of PulseNet International
• a global laboratory surveillance network of enteric pathogens
• based on Pulse Field Gel Electrophoresis (PFGE) fingerprint technology
• Originally developed at CDC Atlanta for E. coli O157:H7 Outbreak investigation
in 1993
• PulseNet Canada formed in 2000 and shares fingerprint data with
other PulseNet partners including direct database linkage with the
CDC
• PulseNet is transitioning from PFGE to WGS within 3 years
• Sequencing facilities are being setup in PH labs across Canada this
year
14. Each year, one in eight Canadians (or 4 million people)
get sick with a domestically acquired food-borne illness.
http://www.phac-aspc.gc.ca/efwd-emoha/efbi-emoa-eng.php
15. Each year, one in six American (or 48 million people)
get sick with a domestically acquired food-borne illness.
http://www.cdc.gov/foodborneburden/
16. Improve Public Health Microbiology using
Genomic Epidemiology
• Genomic Epidemiology Definition: Using whole genome sequencing
data from pathogens and epidemiological investigations to track
spread of an infectious disease
• Lead to faster and simpler test menu and more actionable
information (virulence factors, AMR, source tracking)
• However, there are a few hurdles to overcome….
17. Many Players in surveillance and outbreak – ineffective
information sharing
Provincial public
health dept.
National laboratory
Local public
health dept.
Provincial
laboratory
Cases
Physicians Frontline lab
Information
BioinformaticsandAnalyticalCapacities
19. IRIDA Platform Overview
• IRIDA= Integrated Rapid Infectious Disease Analysis
• A free, open source, standards compliant, high quality genomic
epidemiology analysis platform to support real-time disease
outbreak investigations
Core Functions:
• Management of strain and genomic sequence data
• Rapid processing and analysis of genomic data
• Informative display of genomic results
• Sample, Case, and aggregate data (“metadata”) Management
Target audience:
• Public health agencies who need a platform to manage and
process genomic data
• Public health agencies who need a platform to use genomics for
outbreak investigations
IRIDA
Sequencing
Instruments
Web
Application
Data
management
Built-in
Analytical
Tools
External
Galaxy
Command-
line Tools
20. IRIDA is a Partnership
National
Public Health Agency
Provincial
Public Health Agency
Academic/Public
- Project Team has direct access to state of the
art research in academia
- Project Team is directly embedded in user
organization
21. IRIDA Has A Simple User Interface
Line List View (under testing)
Timeline View (Conceptualization)
Selectable fields
Travel
Symptoms and Onset
Exposure Types
Hospitalization
Launch a pipeline
22. IRIDA is a Robust, Extensible Platform
• IRIDA uses Galaxy to
manage workflows
• Adding additional
pipelines is relatively
easy
• Using a standard
API to allow 3rd party
tools to obtain data
from IRIDA (e.g.
IslandViewer and
GenGIS)
IRIDA
ServletContainer
REST API
Central File
Storage
Web
Interface
ApplicationLogic
Compute
Cluster
Galaxy
$ ~ >_ Galaxy
23. IRIDA is Built to Enable Collaboration
• Be able to compare pipelines
• Pipeline implemented using Galaxy –
transparent and shareable
• Define QC criteria using ontology to compare
the different pipelines of the same purpose
• Be able to share data to minimize data re-
entry from one platform to another
• Federation of platforms using standard API
to share data and analysis results
24. Distributed in Multiple, Flexible Access Options
• IRIDA is available in several different flavours.
• Download latest version at https://github.com/phac-nml/irida
Local Install Virtual Machine Cloud Instance Public Version
Advantages Full control of the
system; your data
never leaves your
centre
Full control of the
system; Easy to setup
Full control of the
system; does not
require local
computing
infrastructure
No setup required,
upload your data and
have it processed
using Compute
Canada Resource
Disadvantages Computing
infrastructure and IT
support needed to
main the resource
Not really scalable if
run on your own
desktop; some
performance loss
Data goes into a
cloud environment;
uploading to cloud
environment can be
slow
Data goes into a
public instance (data
remain private to
your account);
upload can be slow
25. Contextual Information is Crucial for Interpreting Genomics
Data.
Sequence
+ =
Contextual Info Find the Pathogenic Culprit!
Source: Emma Griffiths
26. Contextual Information Needs to be Shared…..
So Keep the Next User in Mind.
International Partners Intervention Partners
Source: Emma Griffiths
28. When Words Can Mean Different Things.
Semantic Ambiguity.
http://www.neurolang.com/wp-content/uploads/2013/05/RhymesAmbiguity.png
29. “Ontologies are for the digital age what dictionaries were in the age of print.”
Logic
Vocabulary
Hierarchy
Knowledge Extraction
Ontology
Ontology, A Way of Structuring Information.
• Standardized, well-defined hierarchy terms
• interconnected with logical relationships
• “knowledge-generation engine”
=
Source: Emma Griffiths
30. Ontologies Standardize Vocabulary and Enable Complex Querying
Simple Food Ontology Hierarchy
Animal Feed Poultry Water
Pellets Nuggets Deli Meats Bottled Well
Produce
Spinach Sprouts Whole Mice
Transmission
through_
ingestion or
contact
Treated
by_filtration
Taxonomy_Spniacea
oleracea
Preparation_Ready
-to-Eat
Animal
(Consumer)_
Snake
Synonym_Cold Cuts
Source: Emma Griffiths
31. Case Studies: Ontology Can Help Resolve Issues of Taxonomy, Granularity and Specificity.
Leafy Greens
Spinach Lettuce
EndiveIcebergSpinacia oleracea Amaranthus hybridus
Taxonomy_species
found in N. America
Taxonomy_species
found in S. Africa Equivalent Subtypes
of Lettuce
a) Taxonomy & Granularity
Poultry
Chicken Nuggets
b) Specificity
Breast
Processing_Ready-to-Eat
Composition_breading,
spices, chicken breast
Location of
Purchase_Retail
(Grocery Store vs
Butcher)
Preparation_marinated
Source: Emma Griffiths
32. Ontology Acts Like A Rosetta Stone.
• Need a common language
• Humans AND computers need to read it
• Mapping allows interoperability AND
customization
*ontologies can be translated into different human languages as wellRosetta Stone – Egypt, 196 BC
• stone tablet translating same text
into different ancient languages
Source: Emma Griffiths
33. GenEpiO: Combining Different Epi, Lab, Genomics and Clinical Data Fields.
Lab Analytics
Genomics, PFGE
Serotyping, Phage typing
MLST, AMR
Sample Metadata
Isolation Source (Food, Host
Body Product,
Environmental), BioSample
Epidemiology Investigation
Exposures
Clinical Data
Patient demographics, Medical
History, Comorbidities,
Symptoms, Health Status
Reporting
Case/Investigation Status
GenEpiO
(Genomic Epidemiology
Application Ontology)
Source: Emma Griffiths
34. Use computers to
identify common
exposures, symptoms
etc among genomics
clusters
Example: Automating Case Definition generation
Correlate Genomics Salmonella Cluster A cases between 01 Mar 2015- 15 Mar 2015 with
High-Risk Food Types Spinach Leafy Greens and Geographical Location of Vancouver
XXXXXXXXXXXXXX
GenEpiO Will Help Integrate Genomics and Epidemiological
Data
Source: Emma Griffiths
35. Public Health
Surveillance
Case Cluster
Analysis
Result
Reporting
Infectious Disease Epidemiology (from case to Intervention)Lab Surveillance (from sample to strain typing results)
Evidence Collection
& Outbreak
Investigation
Sample Collection
& Processing
Sequence Data
Generation &
Processing
Bioinformatics
Analysis
Result
Reporting
Whole Genome
Sequencing (SO, ERO, OBI etc)
Quality Control (OBI, ERO)
Legend
GenEpiO
OBO
Other
Anatomy
(FMA)
Environment (Envo)
Food (FoodOn)
Clinical Sampling (OBI)
Custom LIMS
Quality Control (OBI, ERO)
AMR (ARO)
Virulence (PATO)
Phylogenetic Clustering (EDAM)
Mobile Elements (MobiO)
Quality Control (OBI, ERO)
Nomenclature & Taxonomy
(NCBItaxon)
AMR (ARO) LOINC
Surveillance (SurvO)
Demographics (SIO)
Patient History (SIO)
Symptoms (SYMP)
Exposures (ExO)
Source Attribution (IDO)
Travel (IDO)
Transmission (TRANS)
Food (FoodOn)
Geography (OMRSE)
Outbreak Protocols
Surveillance (SurvO)
Food (FoodOn)
Surveillance (SurvO)
Mobile Elements (MobiO)
Infectious Disease (IDO)
Typing (TypON)
36. Genomic Epidemiology Ontology: Using a Common Language to Get
Ahead of the Epidemiological Curve
Fewer
cases…faster
resolution!
Source: Emma Griffiths
38. 39
Higher Salmonellosis Incidents in BC
Higher salmonellosis rate than Canada national rate since 2007:
S. Enteritidis most commonly isolated serotype since 2006 (accounts for 30-50% of all Salmonella
isolates in BC)
BC
Canada
Source: http://www.bccdc.ca/NR/rdonlyres/B24C1DFD-3996-493F-BEC7-0C9316E57721/0/2011_CD_Annual_Report_Final.pdf
39. • PFGE: Over half of isolates tested are 1 of 2 XbaI patterns
• Phagetyping (PT): ~half of isolates are 1 PT.
• So a better method of subtyping is needed for discrimination between cases of Enteritidis…
– OR is a very large outbreak (no supporting data for this)
Enteritidis Xba Patterns 1998-2012
SENXAI.0003
SENXAI.0001
SENXAI.0038
SENXAI.0006
SENXAI.0036
SENXAI.0004
SENXAI.0007
SENXAI.0008
SENXAI.0062
SENXAI.0041
SENXAI.0077
SENXAI.0002
SENXAI.0025
SENXAI.0060
SENXAI.0009
Enteritidis PT distribution 1998-2012
8
13a
13
Atypical
6a
1
4
51
5b
41
Untypable
1b
Untypeable
21
14b
6
2
All have been PFGE’d but not all PT’d
S. Enteritidis subtyping in BC
Source: Kim Macdonald
40. Isolates and Methods
• 36 isolates from 9 confirmed food-borne outbreaks
• Collected over 9 years – many more isolates in the freezer waiting to be organized
• Subtyping data by PFGE and PT available
• Isolates from epi-linked sources available for 2 of the outbreaks
• Isolate Picking Criteria:
• believed to be single source outbreak (common food, common food handler or common
ingredients)
• clear epidemiological linkage through enhanced interviews
• majority of the clusters have the same PT and/or PFGE. Some have one PFGE band difference
• Sequencing library prepared using Nextera or Nextera XT
• Sequenced on Illumina MiSeq 150bp or 250bp paired-end
• Minimal depth cover 30X per genome (average coverage 50x)
41. SNP Analysis
• What is a SNP?
• A SNP (single nucleotide polymorphism) is DNA sequence variation occurring
when a single nucleotide differs between two or more genomes
ATCGCGATATCATACGG
ATCGCAATATCATACGG
ATCGCGATATCATACGG
ATCGCGATATCATACGG
ATCGCAATATCATACGG
• SNP can be created from point mutation but can also be created from
insertion and deletion of one nucleotide
42. Why are SNPs useful
• Silent mutations that do not change protein sequences happen quite
frequently due to DNA replication errors => High Resolution
• SNPs occurs across the whole genome and can be detected from
whole genome sequencing => Unbiased markers
• SNPs can be used to infer phylogeny of organisms
• More shared SNPs = more closely related
43. Minimal Spanning Tree – colored by PT
PT8
PT4
PT13a
PT52
Note: for PT13a, 3 isolates have identical SNVs and collapsed into a single
node; edges are not drawn to scale
44. Minimal Spanning Tree – Coloured by outbreak
Created using PhyloViz Online:
http://online.phyloviz.net/
46. Giardia
• Giardia is a primitive, eukaryote protozoa belonging to Diplomonads
• Its representatives are differentiated into 8 lineages (A-H) with 2 lineages
(A & B) infecting human. Genomes (A, B, E) of 3 lineages are available.
• G. duodenalis (lineage A & B) causes gastrointestinal disease (giardiasis) in
human and is spread by drinking water.
• There is over 1 billion cases/ year worldwide.
• In BC, various waterborne outbreaks have been reported (Isaac-Renton et
al. 1992, Safaris and Isaac-Renton 1992).
• The infection may be transmitted by drinking water or food.
• Giardia is often associated with an animal host (beaver, Castor
canadiensis), and giardiasis is called “beaver fever”.
47. Study Overview
For the present study, 89 samples from 4 major
outbreaks (Creston, Kitimat, Revelstoke and
Barriere), as well as other events were included.
Trophozoites were retrieved from -80C freezer,
and DNA were extracted from Giardia strains from
surface water, human and beaver using a QIAamp
DNA mini kit.
The identity of isolates was confirmed by 18S
rRNA but 18S doesn’t differentiate subtypes
Paired-end (PE) DNA libraries were constructed
with Nextera® XT DNA kit, and whole genome re-
sequencing was conducted by Illumina MiSeq.
Aldergrove
Dawson Creek
Kamloops
Terrace
Mission Creek
Source: Clement Tsui
48. Bioinformatics Pipelines
Genome Sequencing
(MiSeq)
Quality checking
(Fastqc,
Trim Galore)
Reference Mapping
(Bowtie)
Variant calling
(GATK or DiscoSNP)
SNPs analysis
De novo Assembly
(SPades)
Gene calling
(MAKER)
Comparative
Genomics
Source: Clement Tsui
49. Both A and B are present in outbreaks
0 2 4 6 8 10
Barriere
Kitimat
Creston
B
A2
A1
Outbreaks could have multiple sources.
Source: Clement Tsui
51. 0.06
VANC/96/UBC/126/minor, Revelstoke, Canada
VANC/91/UBC/68/2, Terrace, Canada
VANC/94/UBC/122, Mission Creek, Canada
VANC/92/UBC/102, Mission Creek, Canada
VANC/87/UBC/25, Kelowna, Canada
VANC/91/UBC/74, Mission Creek, Canada
VANC/90/UBC/63, Barriere, Canada
VANC/87/UBC/26, Slocan River, Canada
VANC/90/UBC/54,
Goat River beaver lodge, Canada
VANC/92/UBC/103, Mission Creek, Canada
VANC/94/UBC/125, Mission Creek, Canada
VANC/90/UBC/47, Kitimat, Canada
VANC/94/UBC/124, Mission Creek, Canada
VANC/89/UBC/48, Kitimat Canada
VANC/90/UBC/41, Creston, Canada
VANC/90/UBC/45, Creston, Canada
VANC/90/UBC/44, Creston, Canada
VANC/91/UBC/85, Mission Creek, Canada
VANC/91/UBC/72, Thompson River, Kamloops, Canada
VANC/90/UBC/49, Creston, Canada
VANC/89/UBC/59, Nanaimo, Canada
VANC/91/UBC/67, Terrace, Canada
VANC/91/UBC/68/1, Terrace, Canada
VANC/93/UBC/105, Mission Creek, Canada
VANC/87/UBC/27/minor, Aldergrove, BC
VANC/90/UBC/55/major, Goat River beaver lodge, Canada
VANC/90/UBC/46, Creston, Canada
VANC/92/UBC/84, Mission Creek, Canada
VANC/90/UBC/53, Goat River beaver lodge, Canada
VANC/92/UBC/99, Mission Creek, Canada
VANC/91/UBC/65, Barriere, Canada
VANC/90/UBC/56, Goat River beaver lodge, Canada
VANC/87/UBC/8,
North Vancouver, Canada
VANC/92/UBC/98, Mission Creek, Canada
VANC/96/UBC/127, Revelstoke, Canada
VANC/90/UBC/60, Creston, Canada
VANC/90/UBC/51, Kitimat, Canada
VANC/90/UBC/61, Barriere, Canada
VANC/93/UBC/106/minor, Mission Creek, Canada
VANC/96/UBC/129, Revelstoke, Canada
VANC/90/UBC/58, Mission Creek, Canada
VANC/91/UBC/69, Muskwa River, Dawson Creek, Canada
VANC/85/UBC/9, Terrace, Canada
VANC/90/UBC/40, Creston, Canada
VANC/90/UBC/50/2, Creston, Canada
VANC/96/UBC/128, Revelstoke, Canada
1
1
1
1
0.999
1
0.968
0.975
1
1
1
0.978
0.99
1
1
1
0.818
Creston Outbreak
Revelstoke Outbreak
Barriere Outbreak
Kitimat Outbreak
Kelowna,
Mission Creek
Surface Water
Humans
Veterinary
Source: Clement Tsui
52. Microbial genomics has been a valuable research tool
• Help us understand:
• microbial evolution
• pathogenesis
• create novel industrial processes
• create new laboratory tests
• Use historical isolates – not real time
• Use of laboratory strains – no associated rich clinical and
epidemiological metadata
53. Cultural and Practical Differences
Genomics Research Laboratory Genomics Diagnostic Laboratory
Curiosity driven Production / Case driven
Exploratory analysis tolerated Exploratory analysis discouraged
Reproducibility = other labs’ problem Reproducibility critical
Tweaking protocols desirable Stability in protocols desirable
Protocols don’t need to be validated Protocols need to be validated
Novelty justifies the high cost of
experiment
Conscious of cost per unit test; tests need
to be scalable
By working together, we can bridge the cultural differences
54. Diagnostic tests + Molecular Typing
Sample Processing + maintaining biobank
Sequence Generation
Data Processing and initial analyses (Bioinformatics)
Microbial Genomics Analysis
(Pathogen Evolution)
Epidemiological Analysis
(Molecular epidemiology)
use epi data to
improve typing
accuracy
metadata
typing data
value-added
data
use genomic data
to improve
diagnostic tests
and Molecular
Typing
genomic data
Insights into outbreak progression (short term) and
pathogen evolution (long term)
engage
microbiology
expert groups
engage math/
stats/comp. sc.
expert groups
known strains
Feedback
Genomics
Existing
novel strains
55. Acknowledgements
IRDA Project Principle Investigators
Fiona Brinkman – SFU
Will Hsiao – PHMRL
Gary Van Domselaar – NML
Rob Beiko – Dalhousie U.
Joᾶo Carriҫo – U. of Lisboa
Morag Graham – NML
Eduardo Taboada - NML
Lynn Schriml – U. of Maryland
National Microbiology Laboratory (NML)
Franklin Bristow
Aaron Petkau
Thomas Matthews
Josh Adam
Adam Olson
Tarah Lynch
Shaun Tyler
Philip Mabon
Philip Au
Celine Nadon
Matthew Stuart-Edwards
Chrystal Berry
Lorelee Tschetter
Aleisha Reimer
Peter Kruczkiewicz
Chad Laing
Vic Gannon
Matthew Whiteside
Ross Duncan
Steven Mutschall
Simon Fraser University (SFU)
Melanie Courtot
Emma Griffiths
Geoff Winsor
Julie Shay
Matthew Laird
Bhav Dhillon
Raymond Lo
BC Public Health Microbiology &
Reference Laboratory (PHMRL) and BC
Centre for Disease Control (BCCDC)
Judy Isaac-Renton
Natalie Prystajecky
Jennifer Gardy
Damion Dooley
Linda Hoang
Kim MacDonald
Yin Chang
Eleni Galanis
Marsha Taylor
Cletus D’Souza
Ana Paccagnella
Canadian Food Inspection Agency (CFIA)
Burton Blais
Catherine Carrillo
Dominic Lambert
Dalhousie University
Alex Keddy
McMaster University
Andrew McArthur
Daim Sardar
European Nucleotide Archive
Guy Cochrane
Petra ten Hoopen
Clara Amid
European Food Safety Agency
Leibana Criado Ernesto
Vernazza Francesco
Rizzi Valentina
Sidra Medical Center
Patrick Tang
Salmonella Project
Kim Macdonald
Matthew Croxen
Linda Hoang
Ana Paccagnella
Mark McCabe
Diane Eisler
Brian Auk
Natalie Prystajecky
Marsha Taylor
Eleni Galanis
Giardia Project
Clement Tsui
Ruth Miller
Anamaria Crisan
Damion Dooley
Kirby Cronin
Sara Tan
Justin Dirk
Mark McCabe
Sunny Mak
Brian Auk
Anna Li
C.P. Fung
Lorraine McIntyre
Renata Zanchettin
Natalie Prystajecky
Judy Isaac-Renton