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Curating the Clinical Genome 2022 ePoster Gallery
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Pathogenicity of CLIC5 and SLC12A2 Variants Associated with Hearing Impairment in two African Families
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Recent Enhancements to the Ensembl Variant Effect Predictor
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Non-desmosomal Genes in Arrhythmogenic Cardiomyopathy: Genetic Variants Rating
Evaluating ClinVar Conflicting Variants in Secondary Finding Genes for Use in High-Throughput Screening Approaches
The ClinGen Kidney Disease Clinical Domain Working Group: Defining the Genetic Architecture of Kidney Disease
Expansion of the CIViC Knowledge Model to Include Somatic Oncogenicity and Molecular Profiles
Study of the Nuclear Organization of Telomeres in Urinary Circulating Cells in Bladder Cancer
Clinical and Genetic Aspects of Hereditary Spastic Paraplegia at the Point G University Hospital Center
Association of age at Onset in Amyotrophic Lateral Sclerosis with Circulating Lipids Genetic Risk Scores
Utilizing ClinGen Variant Curation Expert Panel Specifications to Create a Systematic Workflow for Applying Phenotype as Evidence in Clinical Variant Interpretation
From Bedside to Bench and Clinical Practice: A Comprehensive Study of Two Rare Mitochondrial Diseases: MELAS and LHON-Plus
MACE2K: A Text-Mining Tool to Extract Literature-based Evidence to Assist Variant Interpretation Using Machine Learning
Evaluating the Clinical Validity of Gene-Disease Relationships Underlying Motile Ciliopathies
Malaysian Node of the Human Variome Project Database (MyHVPDb)
Discriminate Somatic and Germline Variants with dbSNP, ALFA, and dbVar
A Founder Deletion of Exons 3-8 in FBN2 is not Associated With Congenital Contractural Arachnodactyly in Ashkenazi Jews
Towards Genotype-specific Summaries of Clinical Pharmacogenomic Guidance
Accelerating Curation of the Human Genome Through a Novel Combination of Genomic Language Processing and Expert Manual Review
ClinGen Somatic Cancer Expert Curation of Single Nucleotide Variants in Fibroblast Growth Factor Receptor Genes in Genitourinary Cancers
PharmGKB Pediatric: A Pediatric-Focused Pharmacogenomics Knowledge Resource
Development of a Guideline to Identify Cancer Predisposition Syndromes in Paediatric Solid Tumour Patients in a low Resource Setting - Gauteng, South Africa
Craniofacial Malformations GCEP: Challenges Addressed by Various Curation Strategies for Craniosynostosis Disorders
Curating Skeletal Collagenopathies and Gly-X-Y variants in the Skeletal Disorders GCEP and VCEP
Using the ClinGen Clinical Validity Framework to Assess the Strength of Evidence for Genes Associated with Antibody Deficiencies
Reinterpretation of Variant of Unknown Significance Identified in a Cohort of Patients With Inherited Cardiac Conditions
What’s in a Name? The Opinions and Preferences of People With Intellectual Disability About Genomic Healthcare and Naming of Genetic Conditions
Automated Collection and Curation of Case Reports Describing Cancer Patients with Germline Mutations
Role of TTN Missense Variants in Cardiomyopathy: A Clinical Laboratory Perspective
Genetic Variant Prioritization Software Platform to Support Precuration Workflows at Scale
The ClinGen Linked Data Hub (LDH) Aggregates Diverse Types of Supporting Evidence for Variant Pathogenicity Assessment
The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group
Standardized Assessment of Oncogenicity and Clinical Significance of NTRK Fusions
Formation of a ClinGen Somatic Cancer Variant Curation Expert Panel (SC-VCEP) Dedicated to Oncohistone H3 Variants in Pediatric Gliomas
Curating Gene Variants by the MM-VCEP that Confer Risk to Myeloid Malignancies
ClinGen Criteria Specification (CSpec) Registry for ACMG Variant Classification Evidence Codes, as Specified by ClinGen Expert Panels
Expert Curation of Candidate Mitochondrial Disease Genes and Variants by the MSeqDR Consortium and ClinGen Mito-GCEP and Mito-VCEP
Lack of Evidence for Including COL4A6 in Clinical Kidney Disease Gene Panels
Conditionally Pathogenic Genetic Variants of a Hematopoietic Disease-Suppressing Enhancer
Genetic Analysis in a Group of Mexican Patients with Fanconi Anemia
Re-analysis of Exome Sequencing Data of Undiagnosed Epilepsy cases
Variant Curation Specifications for LZTR1, a Gene with Complex Inheritance Patterns and Disease Relationships
ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

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