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The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation ScienceDirect.com

Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy American Heart Association Journals

Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify medRxiv

ClinGen creates a robust, open-access platform to define the clinical relevance of genes and variants Baylor College of Medicine Blog Network -

Best practices for the interpretation and reporting of clinical whole genome sequencing Nature

ClinGen — The Clinical Genome Resource The New England Journal of Medicine

NIH researchers develop guidelines for reporting polygenic risk scores National Human Genome Research Institute (.gov)

Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3 Frontiers

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy | Circulation American Heart Association Journals

Consultation informs strategies for improving the use of functional evidence in variant classification ScienceDirect.com

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification medRxiv

SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants Frontiers

Family Screening in Patients With Dilated and Arrhythmogenic Cardiomyopathy: The Road Toward Gene-Specific Recommendations American Heart Association Journals

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel ScienceDirect.com

Evaluation of Bayesian Classification Framework on the Variant Classification of Hereditary Cancer Predisposition Genes medRxiv

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation Frontiers

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS ScienceDirect.com

Clinical genome editing to treat sickle cell disease—A brief update Frontiers

SPECIFICATIONS OF THE ACMG/AMP VARIANT CURATION GUIDELINES FOR MYOCILIN: RECOMMENDATIONS FROM THE CLINGEN GLAUCOMA EXPERT PANEL medRxiv

Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type Frontiers

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation | Genetics in Medicine Nature

Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions medRxiv

Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance Frontiers

Clinical Genome Data Model (cGDM) provides Interactive Clinical Decision Support for Precision Medicine Nature

Diagnostic Clinical Genome and Exome Sequencing The New England Journal of Medicine

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Nature