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HuGeAMP Knowledge Portals
Приєднався 3 лис 2020
This channel provides informational videos about the suite of Knowledge Portals implemented in the Human Genetics Amplifier (HuGeAMP) software platform. The Knowledge Portals (KPs) are interconnected web portals that integrate, interpret, and present human genetic and genomic data to spark insights into complex diseases.
Community workshop on standards and infrastructure for predicted effector gene PEG lists - Day 2
Find the video of Day 1 here: ua-cam.com/video/IDzkKNMRMQA/v-deo.htmlsi=pXNCE-nKWraA2MyD
Day 2 program:
0:00 - Introduction and welcome (Noël Burtt, Knowledge Portal Network)
10:05 - GWAS Catalog’s experience developing GWAS standards (Laura Harris, GWAS Catalog)
34:55 - Curation and display of PEG lists in the Knowledge Portals (Maria Costanzo, Knowledge Portal Network)
45:49 - Curation and display of gold standard lists at Open Targets (Xiangyu Jack Ge, Open Targets)
01:02:09 - Results of community survey (Maria Costanzo, Knowledge Portal Network)
01:12:33 - Standardization requirements for use of PEG lists as input for computational and AI methods (Jason Flannick, Boston Children’s Hospital)
01:41:30 - Proposal for PEG list standards (Yue Ji and Laura Harris, GWAS Catalog)
01:53:50 - Breakout groups report back; further discussion in the larger group
Day 2 program:
0:00 - Introduction and welcome (Noël Burtt, Knowledge Portal Network)
10:05 - GWAS Catalog’s experience developing GWAS standards (Laura Harris, GWAS Catalog)
34:55 - Curation and display of PEG lists in the Knowledge Portals (Maria Costanzo, Knowledge Portal Network)
45:49 - Curation and display of gold standard lists at Open Targets (Xiangyu Jack Ge, Open Targets)
01:02:09 - Results of community survey (Maria Costanzo, Knowledge Portal Network)
01:12:33 - Standardization requirements for use of PEG lists as input for computational and AI methods (Jason Flannick, Boston Children’s Hospital)
01:41:30 - Proposal for PEG list standards (Yue Ji and Laura Harris, GWAS Catalog)
01:53:50 - Breakout groups report back; further discussion in the larger group
Переглядів: 31
Відео
Community workshop on standards and infrastructure for predicted effector gene PEG lists - Day 1
Переглядів 4929 годин тому
Find the video of Day 2 here: ua-cam.com/video/ve3OT-eWt4g/v-deo.htmlsi=nbHGb3Xw3QdO_GDB Day 1 program: 0:00 - Introduction and welcome (Noël Burtt, Knowledge Portal Network) 9:48 - Who’s that causal gene? Lessons learned in manually annotating 100,000 GWAS SNPs (Eric Fauman, Pfizer Inc.) 1:20:51 - Open Targets as an end user of PEG lists (Yakov Tsepilov, Open Targets) 1:41:12 - Overview of cur...
KPN Webinar August 8th, 2024
Переглядів 121Місяць тому
This webinar features guest speakers Drs. Alan Attie and Mark Keller, discussing their work on the systems genetics of metabolic disease in mice.
Knowledge Portal Webinar - June 13th, 2024
Переглядів 2823 місяці тому
In this webinar, Dr. Jason Flannick presented his latest research on the PIGEAN (Priors Inferred from GEne ANnotations) framework, a method for incorporating gene annotations into evaluations of genetic support for involvement of genes in a disease or trait of interest.
Knowledge Portal webinar, May 9, 2024
Переглядів 2094 місяці тому
In this webinar, Dr. Maryam Zekavat presented her work on her research connecting ocular and systemic health, and the Knowledge Portal team presented an overview of recently added new data and features in the Knowledge Portals.
Knowledge Portal Webinar - April 11th, 2024: Colocalization and Vision Genomics with Ayellet Segrè
Переглядів 1475 місяців тому
Watch to hear from our friend and colleague, Ayellet Segrè on her efforts to integrate GWAS data with regulatory and single cell genomics to determine causal mechanisms for glaucoma. And see how we worked with her lab to build a Vision Genomics Portal to share and visualize the results. visiongenomics.org/.
Knowledge Portal Focus Group March 14, 2024
Переглядів 1326 місяців тому
In this focus group we presented the in-development Tissue page for the Knowledge Portals and discussed which data types and visualizations would be most useful.
Knowledge Portal Network webinar Feb. 8, 2024: Introduction to the Common Fund Data Ecosystem
Переглядів 2317 місяців тому
In this webinar we reviewed the projects comprising the NIH Common Fund Data Ecosystem (CFDE), and discussed our team's role in building the CFDE Knowledge Center to integrate these resources.
Knowledge Portal Network Focus Group - January 11th, 2024
Переглядів 818 місяців тому
In this focus group we demonstrated and discussed the Colocus colocalization browser, the Signal Sifter, and the Gene Finder, and previewed an in-development tool that will allow Knowledge Portal users to drill down from a genome-wide to a regional view and easily access all results in the portal knowledgebase.
December 14th, 2023 - Knowledge Portal Network Webinar
Переглядів 1109 місяців тому
In this webinar, AMP CMD researcher Dr. Anna Gloyn presented her work on using genetics to investigate pancreatic islet dysfunction.
Knowledge Portal Focus Group, November 9, 2023
Переглядів 2,4 тис.10 місяців тому
In this focus group, Dr. Kyle Gaulton of the University of California, San Diego reviewed single-cell expression and epigenomic data and ways to represent them.
KPN Webinar October 12, 2023 - Wenli Yang
Переглядів 29411 місяців тому
KPN Webinar October 12, 2023 - Wenli Yang
Knowledge Portal Focus Group, Sept. 14, 2023: Dr. Paul Titchenell
Переглядів 434Рік тому
Dr. Titchenell presented a seminar, "Redefining the Role of AKT Signaling in Muscle Growth and Metabolism".
Introducing the NDKP
Переглядів 32Рік тому
Learn about the Neurodegenerative Knowledge Portal in this introductory video
Knowledge Portal Network webinar, August 10, 2023
Переглядів 128Рік тому
In this webinar we presented ways in which the Knowledge Portal can help you share results and data. We talked about the FAQ and template we've created for NIH Data Management Plans, demonstrated an in-development Data Registry that will allow you to upload data easily, and talked about improvements to the BYOR platform that make it more user-friendly.
Knowledge Portal Focus Group July 13, 2013: the colocus browser
Переглядів 127Рік тому
Knowledge Portal Focus Group July 13, 2013: the colocus browser
The genetic support workflow in the Knowledge Portals
Переглядів 101Рік тому
The genetic support workflow in the Knowledge Portals
How to use the Knowledge Portal Gene Sifter
Переглядів 76Рік тому
How to use the Knowledge Portal Gene Sifter
Knowledge Portal Network webinar, June 8, 2023
Переглядів 7 тис.Рік тому
Knowledge Portal Network webinar, June 8, 2023
Knowledge Portal Focus Group - May 11th, 2023
Переглядів 132Рік тому
Knowledge Portal Focus Group - May 11th, 2023
April 13, 2023 Knowledge Portal Network webinar: Dr. Struan Grant
Переглядів 142Рік тому
April 13, 2023 Knowledge Portal Network webinar: Dr. Struan Grant
Knowledge Portal Network Focus Group, March 9, 2023
Переглядів 70Рік тому
Knowledge Portal Network Focus Group, March 9, 2023
Using the Signal Sifter in the Knowledge Portals
Переглядів 37Рік тому
Using the Signal Sifter in the Knowledge Portals
Using the Gene Finder in the Knowledge Portals
Переглядів 71Рік тому
Using the Gene Finder in the Knowledge Portals
Lists of predicted effector genes in the Knowledge Portals
Переглядів 62Рік тому
Lists of predicted effector genes in the Knowledge Portals
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