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ClinGen Posters in ACMG Poster Gallery

The 2020 ACMG Annual Clinical Genetics Meeting Poster Gallery is now available in the online ACMG Genetics Academy! Visit this link to view 800+ poster abstracts. 

Here are the ClinGen ACMG 2020 posters:


  • 8 Assessing The Strength Of Evidence For Genes Implicated In The Leigh Syndrome Spectrum Using The ClinGen Clinical Validity Framework (E. McCormick) 

  • 98 Development Of Gene Specifications For The X-linked Creatine Transporter (SLC6A8) By ClinGen’s Cerebral Creatine Deficiencies (CCDS) Variant Curation Expert Panel (A. Thomas-Wilson)

  • 114 Evaluating Dosage Sensitivity Of Hereditary Cancer Genes (M. Goodenberger)

  • 120 Developing Optimized ACMG-AMP Criteria For Classification Of Germline Variants In TP53 (M. Frone)

  • 126 CDH1 ACMG/AMP Variant Interpretation Guidelines Version 2.0: Evolution Of ClinGen Expert Panel Specifications (X. Luo)

  • 161 Contributing To Gene-disease Discovery Through GenomeConnect, ClinGen’s Online Patient Registry    (J. Savatt)*

  • 165 Creating A Polygenic Risk Score (prs) Reporting Standards Framework And Polygenic Score (pgs) Catalog To Improve Validation And Interpretation (H. Wand)*

  • 210 Gene-specific Variant Interpretation Guidelines In GCK, HNF1A, And HNF4A: Update From The ClinGen Monogenic Diabetes Expert Panel (H. Zhang)

  • 213 Specification Of The ACMG/AMP Sequence Variant Interpretation Guidelines In The Context Of Multiple Disease Subtypes And Inheritance Patterns (J. Ross)

  • 316 ClinGen Clinical Actionability Curation Tools, Web Services And Knowledge Repository (N. Shah)

  • 369 Crowd-sourced Annotation Of The Biomedical Literature Enhances Evidence Capture And Expedites Expert Biocuration (C. Thaxton)

  • 459 Computationally Assisted Biocuration Augments Data Capture For Variant Curation Expert Panels (M. Jairath)

  • 553 Creating An Open-source Gene Curation Database From The Gene Curation Coalition (GenCC) (M. DiStefano)

  • 560 Linked Data Hub: Scalable Infrastructure For Aggregation And Sharing Of Diverse Types Of Variant Information To Support Variant Pathogenicity Assessment (N. Shah)

  • 603 Computational Prediction Thresholds For The Curation Of Missense Variants - Insights From The ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel (S. Mohan)

  • 682 Copy Number Variants Now Supported By The ClinGen Allele Registry (R. Patel)

  • 723 The ClinGen Biocurator Working Group: A Forum For Education And Training For ClinGen Biocurators (J. Goldstein)

  • 821 Customizing ClinGen’s Variant Curation Interface (C. Preston)

Date March 25, 2020
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