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p: Follow us on social media for late-breaking announcements about the workshop: @ClinGenResource on Twitter, and ClinGenResource on Facebook
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h1: Growing the Public Knowledge Base for Clinical Genome Interpretation—Harnessing the Resources of the ClinGen Project
h2: Workshop to be conducted at ASHG-2015
p: The ability to sequence human genomes now far surpasses our ability to interpret the clinical significance of genetic variants. In addition to the clinical relevance, new disease-associated genes and variants uncovered from millions of human genomes sequenced in clinical contexts in the coming years will become a powerful driver of human genetics and basic biology research. With clinical laboratories and genetics researchers now increasingly applying genome-scale sequencing in diagnostic and research venues, accurate interpretation of gene-disease relationships and the clinical relevance of genomic variants is vital. </br></br> The ClinGen consortium was created to organize and support creation of a knowledge base that will inform clinical interpretation of genomic variation. The ClinGen consortium collects assertions regarding genes and variants from the community, assembles expert working groups to curate their significance, and develops novel methods and informatics systems to support these activities and to computationally assess novel variants or variants of uncertain significance. In this highly interactive, case-based session, members of the ClinGen consortium will present the standard procedures that will be used to curate the clinical significance of genes and variants. Participants will then have the opportunity to engage in a real-time curation exercise to apply these procedures to actual examples. </br> </br> Workshop requirements: You must bring your laptop. Your laptop should have full battery power and must have a wireless card. You may use your laptop to participate in the interactive part of the workshop. We will be using a web-based, interactive polling platform provided by: https://www.polleverywhere.com/ . You do not need to do any preparation in advance, as we will walk you through the few minute setup at the workshop.
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h1: Program Schedule
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p: Slides for all the presentations below are available here (file size: 21 MB).
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h3: Introduction to ClinGen: Tools and Resources
p: Jonathan Berg (10 minutes)
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h3: The ClinGen Gene Curation Process
p: Erin Riggs (25 minutes) </br> This session will cover </br> <b>Use case</b>: Clinical gene validity classification. </br> The information in these videos is necessary to be able to walk through the examples provided during the workshop: <ul><li>Clinical Validity Curation Process</li><li>Clinical Validity Classifications</li></ul>
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h3: Variant Classification
p: Heidi Rehm (35 minutes)
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h3: Pathogenicity Calculator
p: Aleks Milosavljevic (20 minutes). </br> This session will include a Pathogenicity Calculator exercise using variant NM_000169.2:c.639+919G>A in GLA (Fabry disease gene) as an example. </br> <b>** Step-by-step guide through this exercise is available here.</b> </br> To try the exercise yourself, you will need login and password that we sent you via e-mail, if you sent us a request. </br> To start the exercise, login into the Calculator from the Calculator home page. </br> The full table of ACMG evidence codes used in this exercise can be found here. </br> Answers to frequently asked questions about the Pathogenicity Calculator can be found here.
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p: If you have any question please contact Dr. Ronak Patel at ronak.patel@bcm.edu OR Dr. Piotr Pawliczek at Piotr.Pawliczek@bcm.edu.
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