Abstract

? Administration, Meeting Coordination and Stakeholder Engagement This portion of the proposal relates to the management of interactions within the UNC/ACMG/Geisinger/Kaiser research group, as well collaboration among the three connected U41 proposals. We will leverage the ACMG's expertise in meeting coordination to arrange the majority of in-person and web-connected meetings for the consortium. In addition, this section describes a set of outreach activities designed to gain input from stakeholders, contextualize ClinGen products for a variety of end users, and enhance dissemination of the resource.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Biotechnology Resource Cooperative Agreements (U41)
Project #
1U41HG009650-01
Application #
9359761
Study Section
Special Emphasis Panel (ZHG1)
Project Start
Project End
Budget Start
2017-08-01
Budget End
2018-07-31
Support Year
1
Fiscal Year
2017
Total Cost
Indirect Cost

  Institution

Name
University of North Carolina Chapel Hill
Department
Type
DUNS #
608195277
City
Chapel Hill
State
NC
Country
United States
Zip Code
27599

  Publications

Pawliczek, Piotr; Patel, Ronak Y; Ashmore, Lillian R et al. (2018) ClinGen Allele Registry links information about genetic variants. Hum Mutat 39:1690-1701
Iacocca, Michael A; Chora, Joana R; Carrié, Alain et al. (2018) ClinVar database of global familial hypercholesterolemia-associated DNA variants. Hum Mutat 39:1631-1640
Mester, Jessica L; Ghosh, Rajarshi; Pesaran, Tina et al. (2018) Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Hum Mutat 39:1581-1592
Dolman, Lena; Page, Angela; Babb, Lawrence et al. (2018) ClinGen advancing genomic data-sharing standards as a GA4GH driver project. Hum Mutat 39:1686-1689
Milko, Laura V; Funke, Birgit H; Hershberger, Ray E et al. (2018) Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet Med :
Madhavan, Subha; Ritter, Deborah; Micheel, Christine et al. (2018) ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research. Pac Symp Biocomput 23:247-258
McGlaughon, Jennifer L; Goldstein, Jennifer L; Thaxton, Courtney et al. (2018) The progression of the ClinGen gene clinical validity classification over time. Hum Mutat 39:1494-1504
Lee, Kristy; Krempely, Kate; Roberts, Maegan E et al. (2018) Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat 39:1553-1568
Brnich, Sarah E; Rivera-Muñoz, Edgar A; Berg, Jonathan S (2018) Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks. Hum Mutat 39:1531-1541
Ormond, Kelly E; Hallquist, Miranda L G; Buchanan, Adam H et al. (2018) Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background. Genet Med :

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