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Curating the Clinical Genome 2024 ePoster Gallery
Curating the Clinical Genome 2024 ePoster Gallery
Information
Welcome to the Curating the Clinical Genome 2024 ePoster Gallery
Features: ♦ Star Ratings ♦ Bookmark ♦ Comment area
Summary
Availability:
On-Demand
Cost:
FREE
Credit Offered:
No Credit Offered
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Curating the Clinical Genome 2024 ePoster Gallery Course List
Contains (84)
OMIM Molecular Series A View of the Phenotypic Consequences of Related Etiology
A Quantitative Bayesian Informed Approach to TP53-specific Germline Variant Curation: Revised Variant Curation Guidelines Improve Analysis of Germline TP53 Variants for Li-Fraumeni Syndrome
An Ongoing Collaboration: The Association for Creatine Deficiencies and the Clinical Genome Resource Work Together to Facilitate Variant Classification
Challenges of Classifying Variants Associated
ClinGen Congenital Heart Disease GCEP and VCEP: Evaluating the Clinical Validity of Gene-Disease Relationships in Isolated Congenital Heart Disease
ClinGen Curation of ClinVar: Addressing Gene-Disease Evidence and Variant Pathogenicity Discordance
ClinGen Glucose-6-Phosphate Dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the Need for Genetic Variant Classification in G6PD Deficiency
ClinGen_HBOP_VCEP_Curation of ATM Variants Associated With Ataxia-Telangiectasia
Comprehensive Identification of Gene-Disease Relationships Across the Clinical Exome Through Systematic Literature Review and Parallelized Evidence Curation
Criteria_Specification_Registry and Evidence Repository - Dissemination of ClinGen Variant Curation Knowledge
Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel
Deciphering the Collagen Code: Navigating Variant Curation Complexities in Skeletal Disorders
OMIM Molecular Series: A View of the Phenotypic Consequences of Related Etiology
What’s in the Neighborhood? Exploration of Phenotypes and Genes in Genomic Regions With Genescout
Genomic and Immunological Characterization of RAG-Deficient SCID: Implications for Personalized Therapeutic Approaches
The ClinGen_Syndromic_Disorders_Gene_Curation_Expert_Panel
Variant Classification Rules for Ornithine Transcarbamylase, N-Acetylglutamate Synthase, and Carbamylphosphate
The Hybrid Experience: A Retrospective Review of ‘Novel’ CYP2D6::CYP2D7 Alleles
Reanalysis of Pediatric Cohort Undergoing Hereditary Cancer Predisposition Testing Using Bayesian
Exploring the Diagnostic Ability of RNA-seq to Identify
Progress in Curating Gene-Disease Validity for Kidney Cystic
Using _MAVE_ Functional Data for VUS Reclassification in MSH2
RPGR Variant Curation Using Adapted ACMG/AMP Guidelines
Refinement_of_RUNX1_Variant Curation Through Bayesian Modeling
Upcoming_Changes_to_the_Version_3_RUNX1_Curation_Rules
Secondary Findings Analysis in the Personalized Environment and Genes Study: Reduced Return in Disorders with Autosomal Recessive Inheritance Pattern
Updates From the ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel: Challenges and Lessons Learned in Developing Initial Modified ACMG Criteria for RPGR, RS1 and CHM
Pushing the Limit(ed)s: Modifications to a Gene-Disease Validity Framework for Common Diseases and the Impact on Clinical Utility of Genetic Testing
Sherloc-based_Curation_of_Gene-disease_Association_Strength_and_Disease_Mechanism
Somatic Genomic Testing and Variant Curation Practices in Australian and New Zealand Diagnostic Testing Laboratories
Specifications of ACMG/AMP Variant Curation Guidelines for the Analysis of FOXN1 Sequence Variants: Recommendations by ClinGen’s Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
Estimating the Genetic Prevalence of Congenital Hyperinsulinism: Workflow and Challenges in ABCC8
Fantastic PCD Phenotypes and Where to Find Them: A Comparison of Three PCD Genes and Their Phenotypes
Insights_from_Annotating_the_Literature_on_Peroxisomal_Biogenesis Disorders_due_to_PEX1 Defects
Recuration_of_Hearing_Loss_Associated-genes_Demonstrate_Significant_Change_in_Gene-disease_Validity_Over_Time
Specifying_the_ACMG/AMP_Sequence_Variant_Interpretation_Guidelines_for_Congenital_Myopathies
Performance_of_REVEL Scores_in_PAH_VCEP_Variants_Submitted_to_ClinVar
A_CYP2B6_Novel_Allele:_Expanding_Genotypic_Diversity
ClinVar-based_Automated_Classifier_Accelerates_Variant_Interpretation for_Cancer_Predisposition_Syndromes
Structural_and_Functional_Assessment _of_Patient-associated_Variants_in_KCNMA1
The ClinGen Variant Curation Interface and Linked Data Hub
Assessing ClinGen Expert Panel Use of ACMG Guidelines and ClinGen Guidance on Evidence Code
Enhancing the AI-readiness of gnomAD v4 with Integrated GA4GH
What’s in the Neighborhood Exploration of Phenotypes and Genes in Genomic Regions with GeneScout
Genomic and Immunological Characterization of RAG-Deficient SCID Implications for Personalized Therapeutic Approaches
The ClinGen Syndromic Disorders Gene Curation Expert Panel
Variant Classification Rules for Ornithine Transcarbamylase, N-Acetylglutamate Synthase, and Carbamylphosphate Synthetase 1
The Hybrid Experience A Retrospective Review of ‘Novel’ CYP2D6CYP2D7 Alleles
Challenges of Classifying Variants Associated with Disorders of Somatic Mosaicism and Classification Framework Creation
ClinGen Congenital Heart Disease GCEP and VCEP Evaluating the Clinical Validity of Gene-Disease Relationships in Isolated Congenital Heart Disease
Reanalysis of Pediatric Cohort Undergoing Hereditary Cancer Predisposition Testing Using Bayesian Classification Framework
A Quantitative Bayesian Informed Approach to TP53-Specific Germline Variant Curation Revised Variant Curation Guidelines Improve Analysis of Germline TP53 Variants for Li-Fraumeni Syndrome
Exploring the Diagnostic Ability of RNA-Seq to Identify Disease-Causing Variants in Muscular Dystrophy
Progress in Curating Gene-Disease Validity for Kidney Cystic and Ciliopathy Disorders to Inform Genomic Interpretation
An Ongoing Collaboration the Association for Creatine Deficiencies and the Clinical Genome Resource Work Together to Facilitate Variant Classification
Using MAVE Functional Data for VUS Reclassification in MSH2
RPGR Variant Curation Using Adapted ACMG_AMP Guidelines
Refinement of RUNX1 Variant Curation Through Bayesian Modeling
Upcoming Changes to the Version 3 RUNX1 Curation Rules
Secondary Findings Analysis in the Personalized Environment and Genes Study Reduced Return in Disorders with Autosomal Recessive Inheritance Pattern
Comprehensive Identification of Gene-Disease Relationships Across the Clinical Exome Through Systematic Literature
Updates from the ClinGen X-linked Inherited Retinal Disease
Pushing the Limit(ed)s Modifications to a Gene-Disease Validity Framework for Common Diseases and the Impact on Clinical Utility of Genetic Testing
Sherloc-Based Curation of Gene-Disease Association Strength and Disease Mechanism
Somatic Genomic Testing and Variant Curation Practices in Australian and New Zealand Diagnostic Testing Labs
ClinGen Curation of ClinVar Addressing Gene-Disease Evidence and Variant Pathogenicity Discordance
ClinGen HBOP VCEP Curation of ATM Variants Associated with Ataxia-Telangiectasia
Deciphering the Collagen Code Navigating Variant Curation Complexities in Skeletal Disorders
Specifications of ACMG AMP Variant Curation Guidelines for the Analysis of FOXN1 Sequence Variants Recommendations by ClinGen’s Severe Combined Immunodeficiency Disease
Estimating the Genetic Prevalence of Congenital Hyperinsulinism Workflow and Challenges in ABCC8
Criteria Specification Registry and Evidence Repository - Dissemination Of ClinGen Variant Curation Knowledge
Fantastic PCD Phenotypes and Where To Find Them A Comparison of Three PCD Genes and Their Phenotypes
Insights from Annotating the Literature on Peroxisomal Biogenesis Disorders due to PEX1 Defects
Recuration of Hearing Loss Associated-genes Demonstrate Significant Change in Gene-disease Validity Over Time
Curating the Fetal Genome Experience of the ClinGen Prenatal Gene Curation Expert Panel
Specifying the ACMGAMP Sequence Variant Interpretation Guidelines for Congenital Myopathies
ClinGen Glucose-6-phosphate Dehydrogenase (G6PD) Variant Curation Expert Panel Addressing the Need for Genetic Variant Classification in G6PD Deficiency
Performance of REVEL Scores in PAH VCEP Variants Submitted to ClinVar
A CYP2B6 Novel Allele: Expanding Genotypic Diversity
ClinVar-Based Automated Classifier Accelerates Variant Interpretation for Cancer Predisposition Syndromes
Structural and Functional Assessment of Patient-associated Variants in KCNMA1
The ClinGen Variant Curation Interface and Linked Data Hub Support Data Standards in Variant Curation
Assessing ClinGen Expert Panel Use of ACMG Guidelines and ClinGen Guidance on Evidence Code Combing Rules to Inform the Transition to New Curation Frameworks
Enhancing the AI-readiness of gnomAD v4 with Integrated GA4GH Genomic Knowledge Standards
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