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