Genomic Knowledge Standards (GKS) genomicsandhealth.org Genomic - PowerPoint PPT Presentation

Nov 27, 2023 •167 likes •223 views

Genomic Knowledge Standards (GKS) genomicsandhealth.org Genomic Knowledge Standards GKS aims to develop, adopt, and adapt standards to enable the exchange of genomic knowledge Establish framework of standards that lower barriers to

Genomic Knowledge Standards (GKS) genomicsandhealth.org
Genomic Knowledge Standards GKS aims to develop, adopt, and adapt standards to enable the exchange of genomic knowledge Establish framework of standards that lower barriers to • transla=ng genomic knowledge into clinical prac=ce Reusing exis=ng knowledge is essen=al to future impact • Knowledge repositories are a key component • Collaborate with other SDOs on harmonized specifica=ons • genomicsandhealth.org
Genomic Knowledge Standards Variant Representa=on Simple (VMC): 1.0 by Q4 2018, peer-reviewed publica=on • Complex (structural, CNV, imprecise ends): 0.1 by Q4 2018 • Variant Interpreta=on Structured, curated data from publica=ons • Clinical relevance, disease associa=on • DraT spec by Q4 2018 • Engagement: 4 DPs, Work Streams TBD genomicsandhealth.org
Genomic Knowledge Standards Q&A genomicsandhealth.org

Recommend

genomic medicine programs: Lessons from EGAPP Ned Calonge, MD, MPH Chair, EGAPP Working Group

Genomic Medicine Centers Meeting 3: Working with Implementation Stakeholders Implementing Genomic Medicine Programs Standards Evidence-based medicine and genomic medicine programs: Lessons from EGAPP Ned Calonge, MD, MPH Chair, EGAPP

510 views • 22 slides

Knowledge Management for Genomic Clinical Decision Support Casey Overby Taylor, PhD Assistant

Knowledge Management for Genomic Clinical Decision Support Casey Overby Taylor, PhD Assistant Professor of Medicine, Johns Hopkins University Adjunct Investigator, Geisinger Health System Co-Chair, eMERGE EHR Integration Working Group

518 views • 24 slides

Standards for Knowledge Domain Representation Knowledge domain ontologies Existing

Standards for Knowledge Domain Representation Knowledge domain ontologies Existing ontologies for bodies of knowledge? e.g., computer science, library and information science, SKOS (Simple Knowledge Organization System)?

499 views • 14 slides

Including prior knowledge in machine learning for genomic data Jean-Philippe Vert Mines

Including prior knowledge in machine learning for genomic data Jean-Philippe Vert Mines ParisTech / Curie Institute / Inserm StatLearn workshop, Grenoble, March 17, 2011 J.P Vert (ParisTech) Prior knowlege in ML StatLearn 1 / 68 Outline

877 views • 76 slides

Knowledge and Pratice Standards Number Sense WG Corin Mathews, Lise Westeway, Zain Davis

Co- funded by the European Union Knowledge and Pratice Standards Number Sense WG Corin Mathews, Lise Westeway, Zain Davis Knowledge and Practice Standards (KPS) 9 to 17 KPS 12 : KPS 13 : KPS 16 : KPS 10 : Additive Multiplicative KPS 14 :

298 views • 15 slides

Using the genomic relationship matrix to predict the accuracy of genomic selection M.E. Goddard

J. Anim. Breed. Genet. ISSN 0931-2668 ORIGINAL ARTICLE Using the genomic relationship matrix to predict the accuracy of genomic selection M.E. Goddard 1,2 , B.J. Hayes 2 & T.H.E. Meuwissen 3 1 Department of Agriculture and Food Systems,

627 views • 13 slides

Privacy in the Genomic Era XiaoFeng Wang, IUB http://www.informatics.indiana.edu/xw7 Genomic

Privacy in the Genomic Era XiaoFeng Wang, IUB http://www.informatics.indiana.edu/xw7 Genomic Revolution Fast drop in the cost of genome-sequencing 2000: $3 billion Mar. 2014: $1,000 Genotyping 1M variations: below $200

460 views • 15 slides

Predicting Cancer Phenotypes from Somatic Genomic Alterations via Genomic Impact Transformer

Predicting Cancer Phenotypes from Somatic Genomic Alterations via Genomic Impact Transformer Yifeng Tao 1 , Chunhui Cai 2 , William W. Cohen 1,* , Xinghua Lu 2,3,* 1 School of Computer Science, Carnegie Mellon University 2 Department of Biomedical

743 views • 19 slides

Next generation genomic analysis for next generation healthcare GENOMIC SEQUENCING | RAPIDLY

Next generation genomic analysis for next generation healthcare GENOMIC SEQUENCING | RAPIDLY FALLING PRICES 2003 2018 In 1990, Congress established funding for the Human Genome Project. The project ended up costing about $2.7 billion in FY

389 views • 27 slides

Finding a Better Way: Genomic Distinctiveness Kyle B. Brothers Genomics and Ethics in Research

Finding a Better Way: Genomic Distinctiveness Kyle B. Brothers Genomics and Ethics in Research and Medical Decision-Making Cincinnati, OH March 13, 2015 Debates over genomic exceptionalism Overview Clinical analogies Genomic

523 views • 39 slides

Bronze Course 2020 Purpose and objective. Raise flying standards and technical knowledge to

Bronze Course 2020 Purpose and objective. Raise flying standards and technical knowledge to allow safe cross country flying complying with all legislation. To improve airmanship. Theoretical Knowledge Syllabus V2 Nov 11

468 views • 13 slides

Bio2RDF: Towards a Mashup to build bioinformatics knowledge

Bio2RDF: Towards a Mashup to build bioinformatics knowledge systems Integrating Data across web Two ways of looking for genomic information Google It

507 views • 22 slides

The representation of Knowledge Organization Structure (KOS) data. a multiplicity of standards

The representation of Knowledge Organization Structure (KOS) data. a multiplicity of standards Dagobert Soergel College of Information Studies, University of Maryland College Park, MD 20742-4345 Office:(301) 405-2037 Fax (301) 314-9145

313 views • 13 slides

An Overview of IEEE Software Engineering Standards and Knowledge Products Paul R. Croll Chair,

An Overview of IEEE Software Engineering Standards and Knowledge Products Paul R. Croll Chair, IEEE SESC Computer Sciences Corporation pcroll@csc.com Objectives G Provide an introduction to The IEEE Software Engineering Standards Committee

481 views • 46 slides

Knowledge and practice standards and a curriculum framework for graduate language and literacy

Co-funded by the European Union Knowledge and practice standards and a curriculum framework for graduate language and literacy teachers A sub-project of the Consolidated Literacy Working Group of the Primary Teacher Education (PrimTEd)

856 views • 46 slides

QUALITY STANDARDS IN ECOTOURISM The European Ecotourism Knowledge Network ECOLNET Fouli

LLP Transversal Programmes Key Activity 3 ICT NETWORKS QUALITY STANDARDS IN ECOTOURISM The European Ecotourism Knowledge Network ECOLNET Fouli Papageorgiou PRISMA Centre for Development Studies 11th Summer Academy of Euracademy

283 views • 15 slides

Genomic Medicine Centers Meeting VII Genomic Clinical Decision Support Developing Solutions

Genomic Medicine Centers Meeting VII Genomic Clinical Decision Support Developing Solutions for Clinical and Research Implementations October 2-3, 2014 Introductions Introductions and Welcome: Marc and Blackford Around the room

426 views • 17 slides

Public Health and Genomic Medicine: How do we get from here to there? Key Areas Enhancing

Public Health and Genomic Medicine: How do we get from here to there? Key Areas Enhancing genomic literacy for all health care practitioners, and their patients (S. Cox) The promise of genomics in clinical practice: Separating fact from

509 views • 12 slides

Benchmarking Security Standards and Knowledge Innovations of Physical Protection of Nuclear

International Conference on Physical Protection of Nuclear Material and Nuclear Facilities, IAEA Headquarters Vienna, Austria, 13 17 November, 2017 Benchmarking Security Standards and Knowledge Innovations of Physical Protection of

420 views • 21 slides

Pharmacogenomics cs at at the NIH Simona Volpi, PhD Division of Genomic Medicine, NHGRI

Pharmacogenomics cs at at the NIH Simona Volpi, PhD Division of Genomic Medicine, NHGRI Genomic Medicine X Meeting May 2 nd , 2017 Pharmacogenomics at the NIH Meeting December 14, 2016 Organized by NHGRIs Division of Genomic

351 views • 12 slides

Predicting Cancer Phenotypes based on Somatic Genomic Alterations via Genomic Impact Transformer

Predicting Cancer Phenotypes based on Somatic Genomic Alterations via Genomic Impact Transformer Yifeng Tao 1 , Chunhui Cai 2 , William W. Cohen 1* , Xinghua Lu 2* 1 Carnegie Mellon University 2 University of Pittsburgh Yifeng Tao Carnegie

618 views • 18 slides

GM6: International efforts and opportunities in Genomic Medicine Total attendance > 250

GM6: International efforts and opportunities in Genomic Medicine Total attendance > 250 > 30 countries Why this topic? Genomic medicine is global Genome hubs: US, India, China, Japan, Korea, Canada There is

318 views • 13 slides

Wisconsin Model Early Learning Standards Speaking and Listening: Presentation of Knowledge and

Wisconsin Model Early Learning Standards Speaking and Listening: Presentation of Knowledge and Ideas III. Language Development and Communication B. Speaking and Communicating Developmental Expectations Children in Wisconsin will convey and

188 views • 5 slides

Standards (code and otherwise) often talk about code standards, but many teams also use

Standards (code and otherwise) often talk about code standards, but many teams also use document standards, version control standards, bug reporting standards, process standards, etc goal is to reduce confusion, errors, omissions in

529 views • 5 slides