Publications
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variantsPublications - December 10, 2020
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Expert Interpretation of Genes and Variants in Hereditary Hearing LossPublications - September 16, 2020
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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert PanelsPublications - November 29, 2019
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A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)Publications - October 23, 2019
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ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variantsPublications - October 22, 2019
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ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene–Disease PairsPublications - March 21, 2019
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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesPublications - January 25, 2019
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ClinGen advancing genomic data-sharing standards as a GA4GH driver projectPublications - November 1, 2018
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The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variantsPublications - November 1, 2018
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Updated recommendation for the benign stand-alone ACMG/AMP criterionPublications - October 11, 2018
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ClinGen's GenomeConnect registry enables patient-centered data sharingPublications - October 11, 2018
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The progression of the ClinGen gene clinical validity classification over timePublications - October 11, 2018
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The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomicsPublications - October 11, 2018
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ClinGen Allele Registry links information about genetic variantsPublications - October 11, 2018
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ClinGen and ClinVar – Enabling Genomics in Precision MedicinePublications - October 11, 2018
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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossPublications - October 11, 2018
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ClinVar at five years: Delivering on the promisePublications - October 11, 2018
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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterionPublications - October 11, 2018
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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the futurePublications - September 5, 2018
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Clinical Genetic Testing for Familial HypercholesterolemiaPublications - August 7, 2018
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A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variantsPublications - July 11, 2018
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Development of a Consent Resource for Genomic Data Sharing in the Clinical SettingPublications - June 13, 2018
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ClinVar Miner: Demonstrating Utility of a Web-based Tool for Viewing and Filtering ClinVar DataPublications - May 23, 2018
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The ACMG/AMP Reputable Source Criteria for the Interpretation of Sequence VariantsPublications - March 15, 2018
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ClinGen's RASopathy Expert Panel consensus methods for variant interpretationPublications - March 1, 2018
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Points to consider for sharing variant level information from clinical genetic testing with ClinVarPublications - February 1, 2018
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Modeling the ACMG/AMP variant classification gudielines as a Bayesian classification frameworkPublications - January 4, 2018
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ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variantsPublications - January 1, 2017
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Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized MedicinePublications - November 3, 2016
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Somatic cancer variant curation and harmonization through consensus minimum variant level dataPublications - November 1, 2016
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REVEL: An ensemble method for predicting the pathogenicity of rare missense variantsPublications - October 6, 2016
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A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics researchPublications - September 9, 2016
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Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton StandardPublications - August 31, 2016
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Using ClinVar as a Resource to Support Variant InterpretationPublications - April 11, 2016
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GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic KnowledgePublications - August 6, 2015
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ClinGen - The Clinical Genome ResourcePublications - May 27, 2015
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Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome SequencePublications - May 1, 2015
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Genomic variation: lessons learned from whole-genome CNV analysisPublications - July 18, 2014
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Characterizing genetic variants for clinical actionPublications - March 2, 2014
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Chromosomal microarray impacts clinical managementPublications - February 3, 2014
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Towards an evidence‐based process for the clinical interpretation of copy number variationPublications - November 19, 2011
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188 All Documents
4ClinGen Exhibit Booth Materials |
Curation Activity Procedures |
36Conflict Of Interest (COI) |
19Data Sharing Resources |
9Expert Panel Applications |
21News |
3MOC/CME Forms |
24Patient Data Sharing |
10Policies/Position Statements |
2Presentations |
82Publication |
24Supporting Documents |
36Training Materials |