SlideShare a Scribd company logo
Human Variome Project quality
assessment criteria for variation
databases
Mauno Vihinen on behalf of the Working Group
Protein Structure and Bioinformatics Group
Department of Experimental Medical Science
Lund University, Sweden
Numerous variation databases are available
Widely used for various purposes (research, diagnosis..)
Their contents, update frequency etc vary
So does the quality
How to define variation database quality?
Quality of databases
Variation database quality, working group
HVP Working Group for Variant Database Quality Assessment, 2014
Produced a guideline, accepted by HVP
Publication in the Human Mutation 25th anniversary issue
Components of quality
Two case studies
- BTKbase
- ClinVar
What next?
1) A working group is currently translating the criteria to items that can be
evaluated in practice
Some quality items have simple yes/no evaluation
For many others more detailed grading need to be established
Design a scheme to measure overall database quality
2) Beta testing with some real databases
Refining the quality calculation scheme
3) Database quality evaluation
Requires independent group without any conflict of interest
Feeback for curators and information for users (electronic seal)
4) Refinement of quality criteria
5) Evaluation of databases every few years
Voluntary participation
Thanks!
John Hancock
Donna Maglott
Melissa Landrum
Gerard Schaafsma
Peter Taschner
http://www.humanvariomeproject.org/finish/19/255.html
Vihinen et al. Hum Mutat (2016)
http://structure.bmc.lu.se
mauno.vihinen@med.lu.se

More Related Content

What's hot

Pub med
Pub medPub med
Pub med
Iqra tasifali
 
Faculty Presentation
Faculty PresentationFaculty Presentation
Faculty Presentation
mwils62
 
Building trust through improved tools and practice in the life cycle of mecha...
Building trust through improved tools and practice in the life cycle of mecha...Building trust through improved tools and practice in the life cycle of mecha...
Building trust through improved tools and practice in the life cycle of mecha...
OECD Environment
 
10th Annual Utah's Health Services Research Conference - Data Quality in Mult...
10th Annual Utah's Health Services Research Conference - Data Quality in Mult...10th Annual Utah's Health Services Research Conference - Data Quality in Mult...
10th Annual Utah's Health Services Research Conference - Data Quality in Mult...
Utah's Annual Health Services Research Conference
 
Introduction to Cochrane Clinical Answers
Introduction to Cochrane Clinical AnswersIntroduction to Cochrane Clinical Answers
Introduction to Cochrane Clinical Answers
Juliane Ried
 
Acrl 2011 tech_lib_roundup
Acrl 2011 tech_lib_roundupAcrl 2011 tech_lib_roundup
Acrl 2011 tech_lib_roundup
TechLibraries
 
HSL and PubViz: a novel Medline Exploration Engine
HSL and PubViz: a novel Medline Exploration EngineHSL and PubViz: a novel Medline Exploration Engine
HSL and PubViz: a novel Medline Exploration Engine
University of Michigan Taubman Health Sciences Library
 
Bastian twin-beasts-2015
Bastian twin-beasts-2015Bastian twin-beasts-2015
Bastian twin-beasts-2015
Hilda Bastian
 
SciTech Conference
SciTech ConferenceSciTech Conference
SciTech Conference
Research Information Network
 
COVID-19 and its implications for the scholarly communication system
COVID-19 and its implications for the scholarly communication systemCOVID-19 and its implications for the scholarly communication system
COVID-19 and its implications for the scholarly communication system
Ludo Waltman
 
Understanding Gaps between Data Quality Checks and Research Capabilities in a...
Understanding Gaps between Data Quality Checks and Research Capabilities in a...Understanding Gaps between Data Quality Checks and Research Capabilities in a...
Understanding Gaps between Data Quality Checks and Research Capabilities in a...
The Children's Hospital of Philadelphia
 
25 January 2022: Webinar on Adverse Outcome Pathway co-operative activities b...
25 January 2022: Webinar on Adverse Outcome Pathway co-operative activities b...25 January 2022: Webinar on Adverse Outcome Pathway co-operative activities b...
25 January 2022: Webinar on Adverse Outcome Pathway co-operative activities b...
OECD Environment
 
Alliance for Risk Assessment Dose Response Framework- Society for Risk Analys...
Alliance for Risk Assessment Dose Response Framework- Society for Risk Analys...Alliance for Risk Assessment Dose Response Framework- Society for Risk Analys...
Alliance for Risk Assessment Dose Response Framework- Society for Risk Analys...
Oliver Kroner
 
SciVal Biotechnology Portal
SciVal Biotechnology PortalSciVal Biotechnology Portal
SciVal Biotechnology Portal
Alberto Zigoni
 
Library management and User Trends for SAGE Editors
Library management and User Trends for SAGE Editors Library management and User Trends for SAGE Editors
Library management and User Trends for SAGE Editors
Jason Price, PhD
 
Infographic- Improve Clinical Trial Participation with Mobile Apps
Infographic- Improve Clinical Trial Participation with Mobile AppsInfographic- Improve Clinical Trial Participation with Mobile Apps
Infographic- Improve Clinical Trial Participation with Mobile Apps
Diaspark
 
Introduction to Regenstrief's New Clinical Information System
Introduction to Regenstrief's New Clinical Information SystemIntroduction to Regenstrief's New Clinical Information System
Introduction to Regenstrief's New Clinical Information System
Jon Duke, MD, MS
 
weems-Texas Medicaid Health Home Pilot Project Evaluation Methods
weems-Texas Medicaid Health Home Pilot Project Evaluation Methodsweems-Texas Medicaid Health Home Pilot Project Evaluation Methods
weems-Texas Medicaid Health Home Pilot Project Evaluation Methods
NASHP HealthPolicy
 
Sansone mibbi-intro
Sansone mibbi-introSansone mibbi-intro
Sansone mibbi-intro
MIBBI Checklists
 
Real World Evidence Initiative Report
Real World Evidence Initiative ReportReal World Evidence Initiative Report
Real World Evidence Initiative Report
Center for Medical Technology Policy
 

What's hot (20)

Pub med
Pub medPub med
Pub med
 
Faculty Presentation
Faculty PresentationFaculty Presentation
Faculty Presentation
 
Building trust through improved tools and practice in the life cycle of mecha...
Building trust through improved tools and practice in the life cycle of mecha...Building trust through improved tools and practice in the life cycle of mecha...
Building trust through improved tools and practice in the life cycle of mecha...
 
10th Annual Utah's Health Services Research Conference - Data Quality in Mult...
10th Annual Utah's Health Services Research Conference - Data Quality in Mult...10th Annual Utah's Health Services Research Conference - Data Quality in Mult...
10th Annual Utah's Health Services Research Conference - Data Quality in Mult...
 
Introduction to Cochrane Clinical Answers
Introduction to Cochrane Clinical AnswersIntroduction to Cochrane Clinical Answers
Introduction to Cochrane Clinical Answers
 
Acrl 2011 tech_lib_roundup
Acrl 2011 tech_lib_roundupAcrl 2011 tech_lib_roundup
Acrl 2011 tech_lib_roundup
 
HSL and PubViz: a novel Medline Exploration Engine
HSL and PubViz: a novel Medline Exploration EngineHSL and PubViz: a novel Medline Exploration Engine
HSL and PubViz: a novel Medline Exploration Engine
 
Bastian twin-beasts-2015
Bastian twin-beasts-2015Bastian twin-beasts-2015
Bastian twin-beasts-2015
 
SciTech Conference
SciTech ConferenceSciTech Conference
SciTech Conference
 
COVID-19 and its implications for the scholarly communication system
COVID-19 and its implications for the scholarly communication systemCOVID-19 and its implications for the scholarly communication system
COVID-19 and its implications for the scholarly communication system
 
Understanding Gaps between Data Quality Checks and Research Capabilities in a...
Understanding Gaps between Data Quality Checks and Research Capabilities in a...Understanding Gaps between Data Quality Checks and Research Capabilities in a...
Understanding Gaps between Data Quality Checks and Research Capabilities in a...
 
25 January 2022: Webinar on Adverse Outcome Pathway co-operative activities b...
25 January 2022: Webinar on Adverse Outcome Pathway co-operative activities b...25 January 2022: Webinar on Adverse Outcome Pathway co-operative activities b...
25 January 2022: Webinar on Adverse Outcome Pathway co-operative activities b...
 
Alliance for Risk Assessment Dose Response Framework- Society for Risk Analys...
Alliance for Risk Assessment Dose Response Framework- Society for Risk Analys...Alliance for Risk Assessment Dose Response Framework- Society for Risk Analys...
Alliance for Risk Assessment Dose Response Framework- Society for Risk Analys...
 
SciVal Biotechnology Portal
SciVal Biotechnology PortalSciVal Biotechnology Portal
SciVal Biotechnology Portal
 
Library management and User Trends for SAGE Editors
Library management and User Trends for SAGE Editors Library management and User Trends for SAGE Editors
Library management and User Trends for SAGE Editors
 
Infographic- Improve Clinical Trial Participation with Mobile Apps
Infographic- Improve Clinical Trial Participation with Mobile AppsInfographic- Improve Clinical Trial Participation with Mobile Apps
Infographic- Improve Clinical Trial Participation with Mobile Apps
 
Introduction to Regenstrief's New Clinical Information System
Introduction to Regenstrief's New Clinical Information SystemIntroduction to Regenstrief's New Clinical Information System
Introduction to Regenstrief's New Clinical Information System
 
weems-Texas Medicaid Health Home Pilot Project Evaluation Methods
weems-Texas Medicaid Health Home Pilot Project Evaluation Methodsweems-Texas Medicaid Health Home Pilot Project Evaluation Methods
weems-Texas Medicaid Health Home Pilot Project Evaluation Methods
 
Sansone mibbi-intro
Sansone mibbi-introSansone mibbi-intro
Sansone mibbi-intro
 
Real World Evidence Initiative Report
Real World Evidence Initiative ReportReal World Evidence Initiative Report
Real World Evidence Initiative Report
 

Similar to Human variome project quality assessment criteria for variation databases - Mauno Vihinen

Rapid Review Methods in a COVID-19 World
Rapid Review Methods in a COVID-19 WorldRapid Review Methods in a COVID-19 World
Rapid Review Methods in a COVID-19 World
The National Collaborating Centre for Methods and Tools
 
Read Surkis Facilitating Development of Research Data Services
Read Surkis Facilitating Development of Research Data ServicesRead Surkis Facilitating Development of Research Data Services
Read Surkis Facilitating Development of Research Data Services
National Information Standards Organization (NISO)
 
Embi cri review-2012-final
Embi cri review-2012-finalEmbi cri review-2012-final
Embi cri review-2012-final
Peter Embi
 
Report from the Gene & Disease Specific Database Advisory Council - Peter Ta...
Report from the  Gene & Disease Specific Database Advisory Council - Peter Ta...Report from the  Gene & Disease Specific Database Advisory Council - Peter Ta...
Report from the Gene & Disease Specific Database Advisory Council - Peter Ta...
Human Variome Project
 
Information Products to Drive Decision Making
Information Products to Drive Decision  MakingInformation Products to Drive Decision  Making
Information Products to Drive Decision Making
MEASURE Evaluation
 
2016 CRI Year-in-Review
2016 CRI Year-in-Review2016 CRI Year-in-Review
2016 CRI Year-in-Review
Peter Embi
 
A wiki for cancer treatment guidelines - Jutta von Dinklage
A wiki for cancer treatment guidelines - Jutta von DinklageA wiki for cancer treatment guidelines - Jutta von Dinklage
A wiki for cancer treatment guidelines - Jutta von Dinklage
nswkmforum
 
Measuring National M&E System Strengthening in Nigeria: Application of the Mo...
Measuring National M&E System Strengthening in Nigeria: Application of the Mo...Measuring National M&E System Strengthening in Nigeria: Application of the Mo...
Measuring National M&E System Strengthening in Nigeria: Application of the Mo...
MEASURE Evaluation
 
2010: Time for Minimum Standards for Health Facilities
2010:  Time for Minimum Standards for Health Facilities 2010:  Time for Minimum Standards for Health Facilities
2010: Time for Minimum Standards for Health Facilities
MEASURE Evaluation
 
REG-EAACI Taskforce Report
REG-EAACI Taskforce ReportREG-EAACI Taskforce Report
REG-EAACI Taskforce Report
Zoe Mitchell
 
Evaluating e reference
Evaluating e referenceEvaluating e reference
Evaluating e reference
Elaine Lasda
 
Research to Better Engage HIV+ Former Prisoners in HIV Services
Research to Better Engage HIV+ Former Prisoners in HIV ServicesResearch to Better Engage HIV+ Former Prisoners in HIV Services
Research to Better Engage HIV+ Former Prisoners in HIV Services
UCLA CTSI
 
Evaluation of Gender Aware Health Interventions in South Asia: What do we kn...
Evaluation of Gender Aware Health Interventions in South Asia: What do we kn...Evaluation of Gender Aware Health Interventions in South Asia: What do we kn...
Evaluation of Gender Aware Health Interventions in South Asia: What do we kn...
MEASURE Evaluation
 
Embi cri yir-2017-final
Embi cri yir-2017-finalEmbi cri yir-2017-final
Embi cri yir-2017-final
Peter Embi
 
CareSearch, NSAP and PCOC: Evidence, standards and quality, but what does it ...
CareSearch, NSAP and PCOC: Evidence, standards and quality, but what does it ...CareSearch, NSAP and PCOC: Evidence, standards and quality, but what does it ...
CareSearch, NSAP and PCOC: Evidence, standards and quality, but what does it ...
CareSearch palliative care knowledge network
 
Afp Presentation 6 8 09
Afp Presentation 6 8 09Afp Presentation 6 8 09
Afp Presentation 6 8 09
Joanna Karpinski-Widzer
 
Ensuring data quality
Ensuring data qualityEnsuring data quality
Ensuring data quality
IUPUI
 
Berg_04_04.ppt
Berg_04_04.pptBerg_04_04.ppt
Berg_04_04.ppt
Er.R.Raja Sudharsan
 
Integration Of Declarative and Procedural Knowledge for The Management of Chr...
Integration Of Declarative and Procedural Knowledge for The Management of Chr...Integration Of Declarative and Procedural Knowledge for The Management of Chr...
Integration Of Declarative and Procedural Knowledge for The Management of Chr...
Health Informatics New Zealand
 
Utilization of virtual microscopy in a cooperative group setting
Utilization of virtual microscopy in a cooperative group settingUtilization of virtual microscopy in a cooperative group setting
Utilization of virtual microscopy in a cooperative group setting
BIT002
 

Similar to Human variome project quality assessment criteria for variation databases - Mauno Vihinen (20)

Rapid Review Methods in a COVID-19 World
Rapid Review Methods in a COVID-19 WorldRapid Review Methods in a COVID-19 World
Rapid Review Methods in a COVID-19 World
 
Read Surkis Facilitating Development of Research Data Services
Read Surkis Facilitating Development of Research Data ServicesRead Surkis Facilitating Development of Research Data Services
Read Surkis Facilitating Development of Research Data Services
 
Embi cri review-2012-final
Embi cri review-2012-finalEmbi cri review-2012-final
Embi cri review-2012-final
 
Report from the Gene & Disease Specific Database Advisory Council - Peter Ta...
Report from the  Gene & Disease Specific Database Advisory Council - Peter Ta...Report from the  Gene & Disease Specific Database Advisory Council - Peter Ta...
Report from the Gene & Disease Specific Database Advisory Council - Peter Ta...
 
Information Products to Drive Decision Making
Information Products to Drive Decision  MakingInformation Products to Drive Decision  Making
Information Products to Drive Decision Making
 
2016 CRI Year-in-Review
2016 CRI Year-in-Review2016 CRI Year-in-Review
2016 CRI Year-in-Review
 
A wiki for cancer treatment guidelines - Jutta von Dinklage
A wiki for cancer treatment guidelines - Jutta von DinklageA wiki for cancer treatment guidelines - Jutta von Dinklage
A wiki for cancer treatment guidelines - Jutta von Dinklage
 
Measuring National M&E System Strengthening in Nigeria: Application of the Mo...
Measuring National M&E System Strengthening in Nigeria: Application of the Mo...Measuring National M&E System Strengthening in Nigeria: Application of the Mo...
Measuring National M&E System Strengthening in Nigeria: Application of the Mo...
 
2010: Time for Minimum Standards for Health Facilities
2010:  Time for Minimum Standards for Health Facilities 2010:  Time for Minimum Standards for Health Facilities
2010: Time for Minimum Standards for Health Facilities
 
REG-EAACI Taskforce Report
REG-EAACI Taskforce ReportREG-EAACI Taskforce Report
REG-EAACI Taskforce Report
 
Evaluating e reference
Evaluating e referenceEvaluating e reference
Evaluating e reference
 
Research to Better Engage HIV+ Former Prisoners in HIV Services
Research to Better Engage HIV+ Former Prisoners in HIV ServicesResearch to Better Engage HIV+ Former Prisoners in HIV Services
Research to Better Engage HIV+ Former Prisoners in HIV Services
 
Evaluation of Gender Aware Health Interventions in South Asia: What do we kn...
Evaluation of Gender Aware Health Interventions in South Asia: What do we kn...Evaluation of Gender Aware Health Interventions in South Asia: What do we kn...
Evaluation of Gender Aware Health Interventions in South Asia: What do we kn...
 
Embi cri yir-2017-final
Embi cri yir-2017-finalEmbi cri yir-2017-final
Embi cri yir-2017-final
 
CareSearch, NSAP and PCOC: Evidence, standards and quality, but what does it ...
CareSearch, NSAP and PCOC: Evidence, standards and quality, but what does it ...CareSearch, NSAP and PCOC: Evidence, standards and quality, but what does it ...
CareSearch, NSAP and PCOC: Evidence, standards and quality, but what does it ...
 
Afp Presentation 6 8 09
Afp Presentation 6 8 09Afp Presentation 6 8 09
Afp Presentation 6 8 09
 
Ensuring data quality
Ensuring data qualityEnsuring data quality
Ensuring data quality
 
Berg_04_04.ppt
Berg_04_04.pptBerg_04_04.ppt
Berg_04_04.ppt
 
Integration Of Declarative and Procedural Knowledge for The Management of Chr...
Integration Of Declarative and Procedural Knowledge for The Management of Chr...Integration Of Declarative and Procedural Knowledge for The Management of Chr...
Integration Of Declarative and Procedural Knowledge for The Management of Chr...
 
Utilization of virtual microscopy in a cooperative group setting
Utilization of virtual microscopy in a cooperative group settingUtilization of virtual microscopy in a cooperative group setting
Utilization of virtual microscopy in a cooperative group setting
 

More from Human Variome Project

ClinVar: Aggregating Data to Improve Variant Interpretation - Melissa Landrum
ClinVar: Aggregating Data to Improve Variant Interpretation - Melissa LandrumClinVar: Aggregating Data to Improve Variant Interpretation - Melissa Landrum
ClinVar: Aggregating Data to Improve Variant Interpretation - Melissa Landrum
Human Variome Project
 
The BRCA Share(TM) Consortium - Christophe Beroud
The BRCA Share(TM) Consortium - Christophe BeroudThe BRCA Share(TM) Consortium - Christophe Beroud
The BRCA Share(TM) Consortium - Christophe Beroud
Human Variome Project
 
Establishing validity, reproducibility, and utility of highly scalable geneti...
Establishing validity, reproducibility, and utility of highly scalable geneti...Establishing validity, reproducibility, and utility of highly scalable geneti...
Establishing validity, reproducibility, and utility of highly scalable geneti...
Human Variome Project
 
The PhenX Toolkit: Standard Measures for Collaborative Research - Wayne Huggins
The PhenX Toolkit: Standard Measures for  Collaborative Research - Wayne HugginsThe PhenX Toolkit: Standard Measures for  Collaborative Research - Wayne Huggins
The PhenX Toolkit: Standard Measures for Collaborative Research - Wayne Huggins
Human Variome Project
 
Legal and regulatory challenges to data sharing for clinical genetics and ge...
Legal and regulatory challenges to  data sharing for clinical genetics and ge...Legal and regulatory challenges to  data sharing for clinical genetics and ge...
Legal and regulatory challenges to data sharing for clinical genetics and ge...
Human Variome Project
 
Report from the International Confederation of Countries Advisory Council - M...
Report from the International Confederation of Countries Advisory Council - M...Report from the International Confederation of Countries Advisory Council - M...
Report from the International Confederation of Countries Advisory Council - M...
Human Variome Project
 
HVP Country Node: Venezuela - Aida Falcon de Vargas
HVP Country Node: Venezuela - Aida Falcon de VargasHVP Country Node: Venezuela - Aida Falcon de Vargas
HVP Country Node: Venezuela - Aida Falcon de Vargas
Human Variome Project
 
Human Genetics of Infectious Diseases - Laurent Abel
Human Genetics of Infectious Diseases - Laurent AbelHuman Genetics of Infectious Diseases - Laurent Abel
Human Genetics of Infectious Diseases - Laurent Abel
Human Variome Project
 
HVP Country Node: Malaysia - Zilfalil bin Alwi
HVP Country Node: Malaysia - Zilfalil bin AlwiHVP Country Node: Malaysia - Zilfalil bin Alwi
HVP Country Node: Malaysia - Zilfalil bin Alwi
Human Variome Project
 
GENETIC HETEROGENEITY OF MITOCHONDRIAL DISORDERS - Agnès Rötig
GENETIC HETEROGENEITY OF MITOCHONDRIAL DISORDERS - Agnès RötigGENETIC HETEROGENEITY OF MITOCHONDRIAL DISORDERS - Agnès Rötig
GENETIC HETEROGENEITY OF MITOCHONDRIAL DISORDERS - Agnès Rötig
Human Variome Project
 
The BRCA Challenge & Exchange: Progress and Plans - Gunnar Rätsch
The BRCA Challenge & Exchange: Progress and Plans - Gunnar RätschThe BRCA Challenge & Exchange: Progress and Plans - Gunnar Rätsch
The BRCA Challenge & Exchange: Progress and Plans - Gunnar Rätsch
Human Variome Project
 
Richard GH Cotton: He may have been a bit before his time - Michael Watson
Richard GH Cotton: He may have been a bit before his time - Michael WatsonRichard GH Cotton: He may have been a bit before his time - Michael Watson
Richard GH Cotton: He may have been a bit before his time - Michael Watson
Human Variome Project
 
Professor Richard Cotton - Finlay Macrae
Professor Richard Cotton - Finlay MacraeProfessor Richard Cotton - Finlay Macrae
Professor Richard Cotton - Finlay Macrae
Human Variome Project
 
HVP Country Node: Canada - Matthew Lebo
HVP Country Node: Canada - Matthew LeboHVP Country Node: Canada - Matthew Lebo
HVP Country Node: Canada - Matthew Lebo
Human Variome Project
 
Use of open, curated variant databases: ethics? Liability? - Bartha Knoppers
Use of open, curated variant databases: ethics? Liability? - Bartha KnoppersUse of open, curated variant databases: ethics? Liability? - Bartha Knoppers
Use of open, curated variant databases: ethics? Liability? - Bartha Knoppers
Human Variome Project
 
HVP6: Final Thoughts - John Burn & Raj Ramesar
HVP6: Final Thoughts - John Burn & Raj RamesarHVP6: Final Thoughts - John Burn & Raj Ramesar
HVP6: Final Thoughts - John Burn & Raj Ramesar
Human Variome Project
 
Report from the International Scientific Advisory Committee - John Burn
Report from the International Scientific Advisory Committee - John BurnReport from the International Scientific Advisory Committee - John Burn
Report from the International Scientific Advisory Committee - John Burn
Human Variome Project
 
HVP Country Node: Italy - Domenico Coviello
HVP Country Node: Italy - Domenico CovielloHVP Country Node: Italy - Domenico Coviello
HVP Country Node: Italy - Domenico Coviello
Human Variome Project
 
Rare and common variants contribute to the complex inheritance of Hirschsprun...
Rare and common variants contribute to the complex inheritance of Hirschsprun...Rare and common variants contribute to the complex inheritance of Hirschsprun...
Rare and common variants contribute to the complex inheritance of Hirschsprun...
Human Variome Project
 
Checking the experts: compliance with author instructions regarding HGVS nome...
Checking the experts: compliance with author instructions regarding HGVS nome...Checking the experts: compliance with author instructions regarding HGVS nome...
Checking the experts: compliance with author instructions regarding HGVS nome...
Human Variome Project
 

More from Human Variome Project (20)

ClinVar: Aggregating Data to Improve Variant Interpretation - Melissa Landrum
ClinVar: Aggregating Data to Improve Variant Interpretation - Melissa LandrumClinVar: Aggregating Data to Improve Variant Interpretation - Melissa Landrum
ClinVar: Aggregating Data to Improve Variant Interpretation - Melissa Landrum
 
The BRCA Share(TM) Consortium - Christophe Beroud
The BRCA Share(TM) Consortium - Christophe BeroudThe BRCA Share(TM) Consortium - Christophe Beroud
The BRCA Share(TM) Consortium - Christophe Beroud
 
Establishing validity, reproducibility, and utility of highly scalable geneti...
Establishing validity, reproducibility, and utility of highly scalable geneti...Establishing validity, reproducibility, and utility of highly scalable geneti...
Establishing validity, reproducibility, and utility of highly scalable geneti...
 
The PhenX Toolkit: Standard Measures for Collaborative Research - Wayne Huggins
The PhenX Toolkit: Standard Measures for  Collaborative Research - Wayne HugginsThe PhenX Toolkit: Standard Measures for  Collaborative Research - Wayne Huggins
The PhenX Toolkit: Standard Measures for Collaborative Research - Wayne Huggins
 
Legal and regulatory challenges to data sharing for clinical genetics and ge...
Legal and regulatory challenges to  data sharing for clinical genetics and ge...Legal and regulatory challenges to  data sharing for clinical genetics and ge...
Legal and regulatory challenges to data sharing for clinical genetics and ge...
 
Report from the International Confederation of Countries Advisory Council - M...
Report from the International Confederation of Countries Advisory Council - M...Report from the International Confederation of Countries Advisory Council - M...
Report from the International Confederation of Countries Advisory Council - M...
 
HVP Country Node: Venezuela - Aida Falcon de Vargas
HVP Country Node: Venezuela - Aida Falcon de VargasHVP Country Node: Venezuela - Aida Falcon de Vargas
HVP Country Node: Venezuela - Aida Falcon de Vargas
 
Human Genetics of Infectious Diseases - Laurent Abel
Human Genetics of Infectious Diseases - Laurent AbelHuman Genetics of Infectious Diseases - Laurent Abel
Human Genetics of Infectious Diseases - Laurent Abel
 
HVP Country Node: Malaysia - Zilfalil bin Alwi
HVP Country Node: Malaysia - Zilfalil bin AlwiHVP Country Node: Malaysia - Zilfalil bin Alwi
HVP Country Node: Malaysia - Zilfalil bin Alwi
 
GENETIC HETEROGENEITY OF MITOCHONDRIAL DISORDERS - Agnès Rötig
GENETIC HETEROGENEITY OF MITOCHONDRIAL DISORDERS - Agnès RötigGENETIC HETEROGENEITY OF MITOCHONDRIAL DISORDERS - Agnès Rötig
GENETIC HETEROGENEITY OF MITOCHONDRIAL DISORDERS - Agnès Rötig
 
The BRCA Challenge & Exchange: Progress and Plans - Gunnar Rätsch
The BRCA Challenge & Exchange: Progress and Plans - Gunnar RätschThe BRCA Challenge & Exchange: Progress and Plans - Gunnar Rätsch
The BRCA Challenge & Exchange: Progress and Plans - Gunnar Rätsch
 
Richard GH Cotton: He may have been a bit before his time - Michael Watson
Richard GH Cotton: He may have been a bit before his time - Michael WatsonRichard GH Cotton: He may have been a bit before his time - Michael Watson
Richard GH Cotton: He may have been a bit before his time - Michael Watson
 
Professor Richard Cotton - Finlay Macrae
Professor Richard Cotton - Finlay MacraeProfessor Richard Cotton - Finlay Macrae
Professor Richard Cotton - Finlay Macrae
 
HVP Country Node: Canada - Matthew Lebo
HVP Country Node: Canada - Matthew LeboHVP Country Node: Canada - Matthew Lebo
HVP Country Node: Canada - Matthew Lebo
 
Use of open, curated variant databases: ethics? Liability? - Bartha Knoppers
Use of open, curated variant databases: ethics? Liability? - Bartha KnoppersUse of open, curated variant databases: ethics? Liability? - Bartha Knoppers
Use of open, curated variant databases: ethics? Liability? - Bartha Knoppers
 
HVP6: Final Thoughts - John Burn & Raj Ramesar
HVP6: Final Thoughts - John Burn & Raj RamesarHVP6: Final Thoughts - John Burn & Raj Ramesar
HVP6: Final Thoughts - John Burn & Raj Ramesar
 
Report from the International Scientific Advisory Committee - John Burn
Report from the International Scientific Advisory Committee - John BurnReport from the International Scientific Advisory Committee - John Burn
Report from the International Scientific Advisory Committee - John Burn
 
HVP Country Node: Italy - Domenico Coviello
HVP Country Node: Italy - Domenico CovielloHVP Country Node: Italy - Domenico Coviello
HVP Country Node: Italy - Domenico Coviello
 
Rare and common variants contribute to the complex inheritance of Hirschsprun...
Rare and common variants contribute to the complex inheritance of Hirschsprun...Rare and common variants contribute to the complex inheritance of Hirschsprun...
Rare and common variants contribute to the complex inheritance of Hirschsprun...
 
Checking the experts: compliance with author instructions regarding HGVS nome...
Checking the experts: compliance with author instructions regarding HGVS nome...Checking the experts: compliance with author instructions regarding HGVS nome...
Checking the experts: compliance with author instructions regarding HGVS nome...
 

Recently uploaded

The binding of cosmological structures by massless topological defects
The binding of cosmological structures by massless topological defectsThe binding of cosmological structures by massless topological defects
The binding of cosmological structures by massless topological defects
Sérgio Sacani
 
快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
hozt8xgk
 
Compexometric titration/Chelatorphy titration/chelating titration
Compexometric titration/Chelatorphy titration/chelating titrationCompexometric titration/Chelatorphy titration/chelating titration
Compexometric titration/Chelatorphy titration/chelating titration
Vandana Devesh Sharma
 
ESR spectroscopy in liquid food and beverages.pptx
ESR spectroscopy in liquid food and beverages.pptxESR spectroscopy in liquid food and beverages.pptx
ESR spectroscopy in liquid food and beverages.pptx
PRIYANKA PATEL
 
molar-distalization in orthodontics-seminar.pptx
molar-distalization in orthodontics-seminar.pptxmolar-distalization in orthodontics-seminar.pptx
molar-distalization in orthodontics-seminar.pptx
Anagha Prasad
 
HOW DO ORGANISMS REPRODUCE?reproduction part 1
HOW DO ORGANISMS REPRODUCE?reproduction part 1HOW DO ORGANISMS REPRODUCE?reproduction part 1
HOW DO ORGANISMS REPRODUCE?reproduction part 1
Shashank Shekhar Pandey
 
Juaristi, Jon. - El canon espanol. El legado de la cultura española a la civi...
Juaristi, Jon. - El canon espanol. El legado de la cultura española a la civi...Juaristi, Jon. - El canon espanol. El legado de la cultura española a la civi...
Juaristi, Jon. - El canon espanol. El legado de la cultura española a la civi...
frank0071
 
Eukaryotic Transcription Presentation.pptx
Eukaryotic Transcription Presentation.pptxEukaryotic Transcription Presentation.pptx
Eukaryotic Transcription Presentation.pptx
RitabrataSarkar3
 
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...
Scintica Instrumentation
 
Applied Science: Thermodynamics, Laws & Methodology.pdf
Applied Science: Thermodynamics, Laws & Methodology.pdfApplied Science: Thermodynamics, Laws & Methodology.pdf
Applied Science: Thermodynamics, Laws & Methodology.pdf
University of Hertfordshire
 
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Leonel Morgado
 
Sciences of Europe journal No 142 (2024)
Sciences of Europe journal No 142 (2024)Sciences of Europe journal No 142 (2024)
Sciences of Europe journal No 142 (2024)
Sciences of Europe
 
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
vluwdy49
 
The cost of acquiring information by natural selection
The cost of acquiring information by natural selectionThe cost of acquiring information by natural selection
The cost of acquiring information by natural selection
Carl Bergstrom
 
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdfwaterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
LengamoLAppostilic
 
23PH301 - Optics - Optical Lenses.pptx
23PH301 - Optics  -  Optical Lenses.pptx23PH301 - Optics  -  Optical Lenses.pptx
23PH301 - Optics - Optical Lenses.pptx
RDhivya6
 
11.1 Role of physical biological in deterioration of grains.pdf
11.1 Role of physical biological in deterioration of grains.pdf11.1 Role of physical biological in deterioration of grains.pdf
11.1 Role of physical biological in deterioration of grains.pdf
PirithiRaju
 
EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...
EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...
EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...
Sérgio Sacani
 
Mending Clothing to Support Sustainable Fashion_CIMaR 2024.pdf
Mending Clothing to Support Sustainable Fashion_CIMaR 2024.pdfMending Clothing to Support Sustainable Fashion_CIMaR 2024.pdf
Mending Clothing to Support Sustainable Fashion_CIMaR 2024.pdf
Selcen Ozturkcan
 
Modelo de slide quimica para powerpoint
Modelo  de slide quimica para powerpointModelo  de slide quimica para powerpoint
Modelo de slide quimica para powerpoint
Karen593256
 

Recently uploaded (20)

The binding of cosmological structures by massless topological defects
The binding of cosmological structures by massless topological defectsThe binding of cosmological structures by massless topological defects
The binding of cosmological structures by massless topological defects
 
快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
 
Compexometric titration/Chelatorphy titration/chelating titration
Compexometric titration/Chelatorphy titration/chelating titrationCompexometric titration/Chelatorphy titration/chelating titration
Compexometric titration/Chelatorphy titration/chelating titration
 
ESR spectroscopy in liquid food and beverages.pptx
ESR spectroscopy in liquid food and beverages.pptxESR spectroscopy in liquid food and beverages.pptx
ESR spectroscopy in liquid food and beverages.pptx
 
molar-distalization in orthodontics-seminar.pptx
molar-distalization in orthodontics-seminar.pptxmolar-distalization in orthodontics-seminar.pptx
molar-distalization in orthodontics-seminar.pptx
 
HOW DO ORGANISMS REPRODUCE?reproduction part 1
HOW DO ORGANISMS REPRODUCE?reproduction part 1HOW DO ORGANISMS REPRODUCE?reproduction part 1
HOW DO ORGANISMS REPRODUCE?reproduction part 1
 
Juaristi, Jon. - El canon espanol. El legado de la cultura española a la civi...
Juaristi, Jon. - El canon espanol. El legado de la cultura española a la civi...Juaristi, Jon. - El canon espanol. El legado de la cultura española a la civi...
Juaristi, Jon. - El canon espanol. El legado de la cultura española a la civi...
 
Eukaryotic Transcription Presentation.pptx
Eukaryotic Transcription Presentation.pptxEukaryotic Transcription Presentation.pptx
Eukaryotic Transcription Presentation.pptx
 
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...
 
Applied Science: Thermodynamics, Laws & Methodology.pdf
Applied Science: Thermodynamics, Laws & Methodology.pdfApplied Science: Thermodynamics, Laws & Methodology.pdf
Applied Science: Thermodynamics, Laws & Methodology.pdf
 
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
 
Sciences of Europe journal No 142 (2024)
Sciences of Europe journal No 142 (2024)Sciences of Europe journal No 142 (2024)
Sciences of Europe journal No 142 (2024)
 
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
 
The cost of acquiring information by natural selection
The cost of acquiring information by natural selectionThe cost of acquiring information by natural selection
The cost of acquiring information by natural selection
 
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdfwaterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
 
23PH301 - Optics - Optical Lenses.pptx
23PH301 - Optics  -  Optical Lenses.pptx23PH301 - Optics  -  Optical Lenses.pptx
23PH301 - Optics - Optical Lenses.pptx
 
11.1 Role of physical biological in deterioration of grains.pdf
11.1 Role of physical biological in deterioration of grains.pdf11.1 Role of physical biological in deterioration of grains.pdf
11.1 Role of physical biological in deterioration of grains.pdf
 
EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...
EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...
EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...
 
Mending Clothing to Support Sustainable Fashion_CIMaR 2024.pdf
Mending Clothing to Support Sustainable Fashion_CIMaR 2024.pdfMending Clothing to Support Sustainable Fashion_CIMaR 2024.pdf
Mending Clothing to Support Sustainable Fashion_CIMaR 2024.pdf
 
Modelo de slide quimica para powerpoint
Modelo  de slide quimica para powerpointModelo  de slide quimica para powerpoint
Modelo de slide quimica para powerpoint
 

Human variome project quality assessment criteria for variation databases - Mauno Vihinen

  • 1. Human Variome Project quality assessment criteria for variation databases Mauno Vihinen on behalf of the Working Group Protein Structure and Bioinformatics Group Department of Experimental Medical Science Lund University, Sweden
  • 2. Numerous variation databases are available Widely used for various purposes (research, diagnosis..) Their contents, update frequency etc vary So does the quality How to define variation database quality? Quality of databases
  • 3. Variation database quality, working group HVP Working Group for Variant Database Quality Assessment, 2014 Produced a guideline, accepted by HVP Publication in the Human Mutation 25th anniversary issue
  • 4. Components of quality Two case studies - BTKbase - ClinVar
  • 5. What next? 1) A working group is currently translating the criteria to items that can be evaluated in practice Some quality items have simple yes/no evaluation For many others more detailed grading need to be established Design a scheme to measure overall database quality 2) Beta testing with some real databases Refining the quality calculation scheme 3) Database quality evaluation Requires independent group without any conflict of interest Feeback for curators and information for users (electronic seal) 4) Refinement of quality criteria 5) Evaluation of databases every few years Voluntary participation
  • 6. Thanks! John Hancock Donna Maglott Melissa Landrum Gerard Schaafsma Peter Taschner http://www.humanvariomeproject.org/finish/19/255.html Vihinen et al. Hum Mutat (2016) http://structure.bmc.lu.se mauno.vihinen@med.lu.se

Editor's Notes

  1. The figures for Lund University in the presentation are based on the 2011 financial year.
  2. The figures for Lund University in the presentation are based on the 2011 financial year.