McKnight Poster

Pak Poster

Community Curation for Von Hippel Lindau Disease

Ansar/Macpherson Poster

Chopra Poster

Coffey Poster

Drackley Poster

Goldstein Poster

Good Poster

Gorokhova Poster

Groopman Poster

Hatton Poster

Helbig Poster

Li Poster

McCoy Poster

McCurry Poster

Mohan Poster 1

Mohan Poster 2

Nguyen Poster

Novelli Poster

Preston Poster

Rao Poster

Richardson Poster

Riehle Poster

Ritter Poster 1

Ritter Poster 2

Ross Poster 1

Ross Poster 2

Saliba Poster

Shah Poster

Sheta Poster

Sneddon Poster

Stephanou Poster

Wagner Poster

Pejaver Poster

Pak Audio

A New Intellectual Disability /Autism Gene Curation Expert Panel in Partnership with the CTSA-IDDRC Brain Gene Registry

Mohan Audio 1

Mohan Audio 2

Ritter Audio 1

Ritter Audio 2

Drackley Video

The ClinGen Syndromic Disorders Gene Curation Expert Panel

Utility and Outcomes of the 2019 ACMG-ClinGen Guidelines for Interpretation of CNVs with Unclear Classifications

Classification of the pathogenicity of GAA variants for Pompe disease: Version 2 of the ACMG/AMP specifications from the ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel

Divide and Conquer: Expanding Curation Throughput of the ClinGen Intellectual Disability/Autism Gene Curation Expert Panel and Neurodevelopmental Dosage Sensitivity Task Team

Defining threshold values for the computational and predictive codes (PP3/BP4, PM1) for missense variants in seven LGMD genes

Applying the ACMG/AMP guidelines for disease-specific interpretation in inherited errors of metabolism (IEMs): The ClinGen IEM Working Group’s experience

Predictable DICER1 second hits allow for novel use of somatic data for PP4 application in germline DICER1 curation

Narrowing the nomenclature gap – How to make HPO, OMIM, and other frameworks applicable to the epilepsies and neurodevelopmental disorders

A deep mutational scanning approach to reclassify variants of unknown significance in α-sarcoglycan (SGCA)

In Silico analysis, a tool to support expert curation for Clinical Interpretation of BCL2 Variants in Resistance to Venetoclax in Chronic Lymphocytic Leukemia/ Small Lymphocytic Lymphoma

Assessing gene-disease validity and phenotype specificity in skeletal and craniofacial disorders

Customization of the ACMG/AMP framework for Rett and Angelman-like disorders to address unique challenges

Recommendations for the reorganization of the peroxisomal disease tree within the Monarch Disease Ontology based on the ClinGen peroxisomal disorders gene curation experience

Use of a modified-Delphi approach to define the pleiotropic GATA2-deficient phenotype for the development of ACMG-AMP GATA2 variant curation rules

Bayesian Estimation of a Joint Semi-parametric Recurrent Event Model of Multiple Cancer Types with Applications to the Li-Fraumeni Syndrome

Integrate topology data to improve variant interpretation process for channelopathies: the KCNQ1 experience

ClinGen’s Actionability Working Groups: Development and Early Implementation of an Assertion Rubric for Clinical Actionability

Towards updated recommendations and protocols for the use of computational tools in missense variant pathogenicity assessment

Re-architecture of ClinGen’s Variant Curation Interface (VCI) to Support Future Enhancements Aimed at Scaling Variant Classification

ClinGen Somatic Cancer Expert Curation of Single Nucleotide Variants in the Fibroblast Growth Factor Receptor Genes in Genitourinary Cancers

Informing PVS1 weight for in-frame losses in the HEAT Repeat of ATM

The ClinGen Linked Data Hub Aggregates Supporting Evidence for Variant Prioritization and Classification

Developing a Somatic Cancer Variant Interpretation Committee to Guide Somatic Cancer Variant Curation Expert Panels (SC-VCEPs)

Transparent and Methodological Curation of Proposed Hereditary Cancer Genes Using the ClinGen Gene-Disease Validity Framework

Establishing Gene Curation and the Clinical Validity of Variants Causing Antibody Deficiency

Evaluating the Clinical Validity of Congenital Myopathy Genes

Enhancement of Pediatric Cancer Curation and Representation Through Expert-guided Data Mining and Ontology Refinement

ClinGen Tools and Services for the Curation and Dissemination of Clinical Actionability Assertions

Improvements to the CIViC knowledgebase driven by collaborations with ClinGen

The ClinGen Kidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel: Challenges with Nephropathy Ontology and Nomenclature

The ClinGen Hemoglobinopathy Variant Curation Expert Panel

The ClinGen Data Platform is Driving Interoperability of Expert Evidence through Standards for Computable Genomic Knowledge