SlideShare a Scribd company logo
Using Citizen Science to
organize biomedical
knowledge
Andrew Su, Ph.D.
@andrewsu
asu@scripps.edu
http://sulab.org
March 5, 2015
Future of Genomic Medicine
Slides posted at slideshare.net/andrewsu
2
Candidate genes
FLNB
CTNNB1
EPHA3
SMAD3
XPO1
RPS27
FLCN
ATR
FLT3
BRD2
ERG
RAF1
EGFR
ERBB4
RARA
JAK3
LRP1
WT1
PML
SMARCA4
…
The biomedical literature is growing fast…
3
0
200,000
400,000
600,000
800,000
1,000,000
1,200,000
1983 1988 1993 1998 2003 2008 2013
Number of new PubMed-indexed articles
… but it is very hard to query and compute
4
… but it is very hard to query and compute
5
Imatinib
Crizotinib
Erlotinib
Gefitinib
Sorafenib
Lapatinib
Dasatinib
…
Acute myeloid leukemia
Acute lymphoblastic leukemia
Chronic myelogenous leukemia
Chronic lymphocytic leukemia
Hodgkin lymphoma
Non-Hodgkin lymphoma
Myeloma
…
AND
6
Pathways
Diseases
Proteins
Variants
Genes
Drugs
Goal: Assemble a network of biomedical
knowledge that is comprehensive,
current, computable and traceable.
Information Extraction
7
1. Identify high level concepts in text
2. Identify relationships between concepts
8
Doğan and Lu. Proceedings of the 2012 Workshop on BioNLP, 2012, 91-9.
NCBI Disease Corpus
593 PubMed abstracts 12 expert annotators
(2 per document)
6,900 “disease concept” mentions
Question: Can a group of non-scientists
collectively perform concept recognition in
biomedical texts?
9
Amazon Mechanical Turk (AMT)
10
Requester
Amazon
Workers
1. Create tasks
2. Execute
3. Aggregate
Experimental design
Task: Identify the “disease concepts” in
the 593 abstracts from the NCBI disease
corpus
– $0.06 per Human Intelligence Task (HIT)
– HIT = annotate one abstract from PubMed
– 15 workers annotate each abstract
11
Comparison to gold standard
12
K = 6
F score = 0.87
• 593 documents
• 15 users / doc
• 9 days
• 145 workers
• $630.96
Precision
Recall
Comparisons to text-mining algorithms
13
Fscore
Text-mining
AMT
experiments
Comparisons to human annotators
14
Average level of
agreement
between expert
annotators
(stage 1)
F = 0.76
Comparisons to human annotators
15
F = 0.76
F = 0.87
Average level of
agreement
between expert
annotators
(stage 2)
Does Mechanical Turk scale?
16
1,000,000 articles per year
10 annotators / article
4 tasks / doc
$0.06 / task
$ 2,400,000 / year
Question: Can a group of non-scientists
collectively perform concept recognition in
biomedical texts ?
17
and will they do
it for free?
^
18
http://mark2cure.org
Mark2Cure Campaign #0
• Goal: replicate the NCBI disease corpus
– 593 documents, 15x redundancy
• Launched Jan 19, 2015
• Completed Feb 16, 2015
19
– 4 weeks
– 10,275 document
annotation events
– 212 unique users
0
0.1
0.2
0.3
0.4
0.5
0.6
0.7
0.8
0.9
1
0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 0.8 0.9 1
Comparison to gold standard
20
k = 6
F score = 0.84
PrecisionRecall
Voting threshold
Total cost: $0
Does Citizen Science scale?
21
1,000,000 articles * 10 AE / article
15,828
volunteers
needed
10,275 AE * 365 days
212 annotators* 28 days
AE = Annotation events
=
Number of annotation
events per year
Number of annotation
events per year
per volunteer
Does Citizen Science scale?
22
15,828
volunteers
needed
175,000
volunteers
300,000
volunteers
37,000
volunteers
1,000,000
volunteers
Annotating the relationships
23
This molecule inhibits the growth of a broad
panel of cancer cell lines, and is particularly
efficacious in leukemia cells, including
orthotopic leukemia preclinical models as
well as in ex vivo acute myeloid leukemia
(AML) and chronic lymphocytic leukemia
(CLL) patient tumor samples. Thus, inhibition
of CDK9 may represent an interesting
approach as a cancer therapeutic target
especially in hematologic malignancies.
therapeutic target
subject
predicate
object
GENE
DISEASE
24
Candidate genes
FLNB
CTNNB1
EPHA3
SMAD3
XPO1
RPS27
FLCN
ATR
FLT3
BRD2
ERG
RAF1
EGFR
ERBB4
RARA
JAK3
LRP1
WT1
PML
SMARCA4
…
25
Cyrus Afrasiabi
Sebastian Burgstaller
Ramya Gamini
Louis Gioia
Salvatore Loguercio
Adam Mark
Erick Scott
Greg Stupp
Andra Waagmeester
Kevin Xin
Other group members
Contact
http://sulab.org
asu@scripps.edu
@andrewsu
+Andrew Su
Mark2Cure
Ben Good
Max Nanis
Ginger Tsueng
Chunlei Wu
All Mark2Curators!
Funding and Support
BioGPS: GM83924
Gene Wiki: GM089820
BD2K Center of Excellence: GM114833
Icon credits (Noun Project, Wikimedia Commons): Zach VanDeHey, hunotika, Viktorvoigt, Alberto Rojas, Lloyd Humphreys
Matt and Cristina Might
NGLY1 community
Why do I Mark2Cure?
26
I am retired, have a doctorate in
medical humanities, and have two
children with Gaucher disease. I am
just looking for some way to put my
education to use.
My 4 year old daughter Phoebe is
living with and battling rare
disease.
I have Ehlers Danlos Syndrome. I hope to help people
learn about this painful and debilitating disorder, so that
others like me can receive more effective medical care.
Take part in
something that
helps humanity.
I Mark2Cure in memory of
my son Mike who had type 1
diabetes.
Studied biology in
college and I really
miss it!
In memory of my daughter
who had Cystic Fibrosis
To give back

More Related Content

PPTX
Open biomedical knowledge using crowdsourcing and citizen science
PPTX
Heart BD2K, Biocuration, and Citizen Science
PPTX
Citizen Science and Rare Disease Research
PPTX
UCSD / DBMI seminar 2015-02-6
PPTX
Quantified Self On Being A Personal Genomic Observatory
PPTX
Open data, compound repurposing, and rare diseases -- Point Loma Nazarene Uni...
PDF
Kit Regulates HSC Engraftment across the Human-Mouse Species Barrier
PDF
NetBioSIG2013-KEYNOTE Esti Yeger-Lotem
Open biomedical knowledge using crowdsourcing and citizen science
Heart BD2K, Biocuration, and Citizen Science
Citizen Science and Rare Disease Research
UCSD / DBMI seminar 2015-02-6
Quantified Self On Being A Personal Genomic Observatory
Open data, compound repurposing, and rare diseases -- Point Loma Nazarene Uni...
Kit Regulates HSC Engraftment across the Human-Mouse Species Barrier
NetBioSIG2013-KEYNOTE Esti Yeger-Lotem

What's hot (20)

PPTX
Bill Faloon at RAADfest 2020
PDF
Phylogenetic and Phylogenomic Approaches to the Study of Microbes and Microbi...
DOCX
Altering the Code of Life
PPTX
Kim Solez combining resources in tx and regen med make no small plans
PDF
NetBioSIG2014-Talk by Salvatore Loguercio
PDF
Barkai2013
PPT
Biomedical literature mining (and why we really need open access)
PPTX
antibody engineering and xenotransplantation
PPTX
Bill Faloon on Anti-Aging Drugs at DaVinci 50 Conference, 2021
PPTX
Open zika presentation
PPTX
Xenotransplantion
KEY
Sbi4 u xenotransplantation
PPTX
Swansea University (October-2020): Challenges of using GWAS in bacteria
PPTX
Ashg sedlazeck grc_share
DOCX
SMART Team Research
PPTX
Bill Faloon's Keynote Speech from RAADfest 2021
PPTX
Xenotransplantation_Public Presentation
PDF
Xenotransplantation
PPTX
Bill Faloon on Extracellular Vesicles from amniotic fluid RAADfest 2021
PPTX
Dr. Randall Prather - PRRS Resistant Pigs
Bill Faloon at RAADfest 2020
Phylogenetic and Phylogenomic Approaches to the Study of Microbes and Microbi...
Altering the Code of Life
Kim Solez combining resources in tx and regen med make no small plans
NetBioSIG2014-Talk by Salvatore Loguercio
Barkai2013
Biomedical literature mining (and why we really need open access)
antibody engineering and xenotransplantation
Bill Faloon on Anti-Aging Drugs at DaVinci 50 Conference, 2021
Open zika presentation
Xenotransplantion
Sbi4 u xenotransplantation
Swansea University (October-2020): Challenges of using GWAS in bacteria
Ashg sedlazeck grc_share
SMART Team Research
Bill Faloon's Keynote Speech from RAADfest 2021
Xenotransplantation_Public Presentation
Xenotransplantation
Bill Faloon on Extracellular Vesicles from amniotic fluid RAADfest 2021
Dr. Randall Prather - PRRS Resistant Pigs
Ad

Similar to Using Citizen Science to organize biomedical knowledge (20)

PPTX
Microtask crowdsourcing for annotating diseases in PubMed abstracts (ASHG 2014)
PPTX
Plasma for fractionation and Patient Blood Management.
PDF
AI in medicine: COVID-19 and beyond
PDF
ACS Spring 2016 Combining semantic triple stores across knowledge domains
PPTX
The case for an open biomedical knowledgebase
PPTX
UK Biobank: A Prospective Cohort Epidemiology Study
PPTX
Flow cytometry: Principles and Applications
PDF
Cambridge Bioscience_ ACEA User Group Meeting2014
PPTX
Gene Wiki and Mark2Cure update for BD2K
PDF
IRJET- Recognition of Human Blood Disease on Sample Microscopic Images
PPT
Overcoming the challenges of molecular diagnostics in government health insti...
PPT
Leukemia Lymphoma Society: An Invitation to Innovation
PPTX
The Gene Wiki: Using Wikipedia and Wikidata to organize biomedical knowledge
PPTX
Flowcytometry 1
PDF
Mind Map Extracellular Vesicles in Cancer and Autoimmunity
PPTX
All information about Blood and Blood chemistry.pptx
PDF
Fna Cytology In The Diagnosis Of Lymphoma Monographs In Clinical Cytology Vol...
PDF
Big data in basic and translational cancer research.pdf
PPTX
Rohan gupta 2015 b1ab651p facs
Microtask crowdsourcing for annotating diseases in PubMed abstracts (ASHG 2014)
Plasma for fractionation and Patient Blood Management.
AI in medicine: COVID-19 and beyond
ACS Spring 2016 Combining semantic triple stores across knowledge domains
The case for an open biomedical knowledgebase
UK Biobank: A Prospective Cohort Epidemiology Study
Flow cytometry: Principles and Applications
Cambridge Bioscience_ ACEA User Group Meeting2014
Gene Wiki and Mark2Cure update for BD2K
IRJET- Recognition of Human Blood Disease on Sample Microscopic Images
Overcoming the challenges of molecular diagnostics in government health insti...
Leukemia Lymphoma Society: An Invitation to Innovation
The Gene Wiki: Using Wikipedia and Wikidata to organize biomedical knowledge
Flowcytometry 1
Mind Map Extracellular Vesicles in Cancer and Autoimmunity
All information about Blood and Blood chemistry.pptx
Fna Cytology In The Diagnosis Of Lymphoma Monographs In Clinical Cytology Vol...
Big data in basic and translational cancer research.pdf
Rohan gupta 2015 b1ab651p facs
Ad

More from Andrew Su (20)

PPTX
Building and mining a heterogeneous biomedical knowledge graph
PPTX
Wikidata as a FAIR knowledge graph for the life sciences
PPTX
BOSC2017: Using Wikidata as an open, community-maintained database of biomedi...
PPTX
WikiGenomes Poster (ISMB)
PPTX
Open data, compound repurposing, and rare diseases (ISCB)
PPTX
Panel on Citizen Science and Crowdsourcing Games - March 27, 2015
PPTX
Crowdsourcing and Learning from Crowd Data (Tutorial @ PSB2015)
PPTX
Crowdsourcing Biology: The Gene Wiki, BioGPS, and Citizen Science
PPTX
Centralized Model Organism Database (Biocuration 2014 poster)
PPTX
A Centralized Model Organism Database (CMOD) for the Long Tail of Sequenced G...
PPTX
Crowdsourcing Biology: The Gene Wiki, BioGPS and GeneGames.org
PPTX
NCBO Webinar: Translating unstructured, crowdsourced content into structured ...
PPTX
Crowdsourcing Biology: The Gene Wiki, BioGPS and GeneGames.org
PPTX
Wikipedia as an engine for scientific communication and collaboration at mass...
PPTX
Crowdsourcing Biology: The Gene Wiki, BioGPS and GeneGames.org (Sanger)
PPTX
GeneGames.org: Crowdsourcing human gene annotation (Genome Informatics 2012)
PPTX
Crowdsourcing to structure biological knowledge (USC/ISI)
PPTX
ISMB2012: The Gene Wiki: Crowdsourcing human gene annotation
PPTX
ISB2012: The Gene Wiki: Crowdsourcing human gene annotation
PPTX
20120220 Tri-Con Cloud Computing Symposium
Building and mining a heterogeneous biomedical knowledge graph
Wikidata as a FAIR knowledge graph for the life sciences
BOSC2017: Using Wikidata as an open, community-maintained database of biomedi...
WikiGenomes Poster (ISMB)
Open data, compound repurposing, and rare diseases (ISCB)
Panel on Citizen Science and Crowdsourcing Games - March 27, 2015
Crowdsourcing and Learning from Crowd Data (Tutorial @ PSB2015)
Crowdsourcing Biology: The Gene Wiki, BioGPS, and Citizen Science
Centralized Model Organism Database (Biocuration 2014 poster)
A Centralized Model Organism Database (CMOD) for the Long Tail of Sequenced G...
Crowdsourcing Biology: The Gene Wiki, BioGPS and GeneGames.org
NCBO Webinar: Translating unstructured, crowdsourced content into structured ...
Crowdsourcing Biology: The Gene Wiki, BioGPS and GeneGames.org
Wikipedia as an engine for scientific communication and collaboration at mass...
Crowdsourcing Biology: The Gene Wiki, BioGPS and GeneGames.org (Sanger)
GeneGames.org: Crowdsourcing human gene annotation (Genome Informatics 2012)
Crowdsourcing to structure biological knowledge (USC/ISI)
ISMB2012: The Gene Wiki: Crowdsourcing human gene annotation
ISB2012: The Gene Wiki: Crowdsourcing human gene annotation
20120220 Tri-Con Cloud Computing Symposium

Recently uploaded (20)

PDF
Cosmic Outliers: Low-spin Halos Explain the Abundance, Compactness, and Redsh...
PPTX
neck nodes and dissection types and lymph nodes levels
PDF
Biophysics 2.pdffffffffffffffffffffffffff
PDF
SEHH2274 Organic Chemistry Notes 1 Structure and Bonding.pdf
PDF
Assessment of environmental effects of quarrying in Kitengela subcountyof Kaj...
PPTX
Protein & Amino Acid Structures Levels of protein structure (primary, seconda...
PPTX
2Systematics of Living Organisms t-.pptx
PPTX
ognitive-behavioral therapy, mindfulness-based approaches, coping skills trai...
PDF
lecture 2026 of Sjogren's syndrome l .pdf
PPT
The World of Physical Science, • Labs: Safety Simulation, Measurement Practice
PPTX
ANEMIA WITH LEUKOPENIA MDS 07_25.pptx htggtftgt fredrctvg
PDF
The scientific heritage No 166 (166) (2025)
PPTX
Vitamins & Minerals: Complete Guide to Functions, Food Sources, Deficiency Si...
PPTX
cpcsea ppt.pptxssssssssssssssjjdjdndndddd
PPTX
famous lake in india and its disturibution and importance
PPT
6.1 High Risk New Born. Padetric health ppt
PPTX
BIOMOLECULES PPT........................
PDF
Phytochemical Investigation of Miliusa longipes.pdf
PDF
Formation of Supersonic Turbulence in the Primordial Star-forming Cloud
PPTX
Classification Systems_TAXONOMY_SCIENCE8.pptx
Cosmic Outliers: Low-spin Halos Explain the Abundance, Compactness, and Redsh...
neck nodes and dissection types and lymph nodes levels
Biophysics 2.pdffffffffffffffffffffffffff
SEHH2274 Organic Chemistry Notes 1 Structure and Bonding.pdf
Assessment of environmental effects of quarrying in Kitengela subcountyof Kaj...
Protein & Amino Acid Structures Levels of protein structure (primary, seconda...
2Systematics of Living Organisms t-.pptx
ognitive-behavioral therapy, mindfulness-based approaches, coping skills trai...
lecture 2026 of Sjogren's syndrome l .pdf
The World of Physical Science, • Labs: Safety Simulation, Measurement Practice
ANEMIA WITH LEUKOPENIA MDS 07_25.pptx htggtftgt fredrctvg
The scientific heritage No 166 (166) (2025)
Vitamins & Minerals: Complete Guide to Functions, Food Sources, Deficiency Si...
cpcsea ppt.pptxssssssssssssssjjdjdndndddd
famous lake in india and its disturibution and importance
6.1 High Risk New Born. Padetric health ppt
BIOMOLECULES PPT........................
Phytochemical Investigation of Miliusa longipes.pdf
Formation of Supersonic Turbulence in the Primordial Star-forming Cloud
Classification Systems_TAXONOMY_SCIENCE8.pptx

Using Citizen Science to organize biomedical knowledge

  • 1. Using Citizen Science to organize biomedical knowledge Andrew Su, Ph.D. @andrewsu asu@scripps.edu http://sulab.org March 5, 2015 Future of Genomic Medicine Slides posted at slideshare.net/andrewsu
  • 3. The biomedical literature is growing fast… 3 0 200,000 400,000 600,000 800,000 1,000,000 1,200,000 1983 1988 1993 1998 2003 2008 2013 Number of new PubMed-indexed articles
  • 4. … but it is very hard to query and compute 4
  • 5. … but it is very hard to query and compute 5 Imatinib Crizotinib Erlotinib Gefitinib Sorafenib Lapatinib Dasatinib … Acute myeloid leukemia Acute lymphoblastic leukemia Chronic myelogenous leukemia Chronic lymphocytic leukemia Hodgkin lymphoma Non-Hodgkin lymphoma Myeloma … AND
  • 6. 6 Pathways Diseases Proteins Variants Genes Drugs Goal: Assemble a network of biomedical knowledge that is comprehensive, current, computable and traceable.
  • 7. Information Extraction 7 1. Identify high level concepts in text 2. Identify relationships between concepts
  • 8. 8 Doğan and Lu. Proceedings of the 2012 Workshop on BioNLP, 2012, 91-9. NCBI Disease Corpus 593 PubMed abstracts 12 expert annotators (2 per document) 6,900 “disease concept” mentions
  • 9. Question: Can a group of non-scientists collectively perform concept recognition in biomedical texts? 9
  • 10. Amazon Mechanical Turk (AMT) 10 Requester Amazon Workers 1. Create tasks 2. Execute 3. Aggregate
  • 11. Experimental design Task: Identify the “disease concepts” in the 593 abstracts from the NCBI disease corpus – $0.06 per Human Intelligence Task (HIT) – HIT = annotate one abstract from PubMed – 15 workers annotate each abstract 11
  • 12. Comparison to gold standard 12 K = 6 F score = 0.87 • 593 documents • 15 users / doc • 9 days • 145 workers • $630.96 Precision Recall
  • 13. Comparisons to text-mining algorithms 13 Fscore Text-mining AMT experiments
  • 14. Comparisons to human annotators 14 Average level of agreement between expert annotators (stage 1) F = 0.76
  • 15. Comparisons to human annotators 15 F = 0.76 F = 0.87 Average level of agreement between expert annotators (stage 2)
  • 16. Does Mechanical Turk scale? 16 1,000,000 articles per year 10 annotators / article 4 tasks / doc $0.06 / task $ 2,400,000 / year
  • 17. Question: Can a group of non-scientists collectively perform concept recognition in biomedical texts ? 17 and will they do it for free? ^
  • 19. Mark2Cure Campaign #0 • Goal: replicate the NCBI disease corpus – 593 documents, 15x redundancy • Launched Jan 19, 2015 • Completed Feb 16, 2015 19 – 4 weeks – 10,275 document annotation events – 212 unique users
  • 20. 0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 0.8 0.9 1 0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 0.8 0.9 1 Comparison to gold standard 20 k = 6 F score = 0.84 PrecisionRecall Voting threshold Total cost: $0
  • 21. Does Citizen Science scale? 21 1,000,000 articles * 10 AE / article 15,828 volunteers needed 10,275 AE * 365 days 212 annotators* 28 days AE = Annotation events = Number of annotation events per year Number of annotation events per year per volunteer
  • 22. Does Citizen Science scale? 22 15,828 volunteers needed 175,000 volunteers 300,000 volunteers 37,000 volunteers 1,000,000 volunteers
  • 23. Annotating the relationships 23 This molecule inhibits the growth of a broad panel of cancer cell lines, and is particularly efficacious in leukemia cells, including orthotopic leukemia preclinical models as well as in ex vivo acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL) patient tumor samples. Thus, inhibition of CDK9 may represent an interesting approach as a cancer therapeutic target especially in hematologic malignancies. therapeutic target subject predicate object GENE DISEASE
  • 25. 25 Cyrus Afrasiabi Sebastian Burgstaller Ramya Gamini Louis Gioia Salvatore Loguercio Adam Mark Erick Scott Greg Stupp Andra Waagmeester Kevin Xin Other group members Contact http://sulab.org asu@scripps.edu @andrewsu +Andrew Su Mark2Cure Ben Good Max Nanis Ginger Tsueng Chunlei Wu All Mark2Curators! Funding and Support BioGPS: GM83924 Gene Wiki: GM089820 BD2K Center of Excellence: GM114833 Icon credits (Noun Project, Wikimedia Commons): Zach VanDeHey, hunotika, Viktorvoigt, Alberto Rojas, Lloyd Humphreys Matt and Cristina Might NGLY1 community
  • 26. Why do I Mark2Cure? 26 I am retired, have a doctorate in medical humanities, and have two children with Gaucher disease. I am just looking for some way to put my education to use. My 4 year old daughter Phoebe is living with and battling rare disease. I have Ehlers Danlos Syndrome. I hope to help people learn about this painful and debilitating disorder, so that others like me can receive more effective medical care. Take part in something that helps humanity. I Mark2Cure in memory of my son Mike who had type 1 diabetes. Studied biology in college and I really miss it! In memory of my daughter who had Cystic Fibrosis To give back