Documents & Announcements

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
Related Group