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ClinGen Virtual Retreat 2021 ePoster Gallery
Posters are arranged alphabetically by the submitting author's last name. You can search by title or the submitting author's name.
Summary
Availability: On-Demand
Cost: FREE
Credit Offered:
No Credit Offered
Contains (74)
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

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