Publications

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene–Disease Pairs

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

ClinGen advancing genomic data-sharing standards as a GA4GH driver project

The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.

Evidence-Based Assessments of Clinical Actionability in the Context of Secondary Findings: Updates from ClinGen’s Actionability Working Group

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

ClinVar database of global familial hypercholesterolemia-associated DNA variants

The progression of the ClinGen gene clinical validity classification over time

ClinVar at five years: Delivering on the promise

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

ClinGen and ClinVar – Enabling Genomics in Precision Medicine

ClinGen's GenomeConnect registry enables patient-centered data sharing

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

Updated recommendation for the benign stand-alone ACMG/AMP criterion

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

ClinGen Allele Registry links information about genetic variants

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Clinical Genetic Testing for Familial Hypercholesterolemia

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting

ClinVar Miner: Demonstrating Utility of a Web-based Tool for Viewing and Filtering ClinVar Data

The ACMG/AMP Reputable Source Criteria for the Interpretation of Sequence Variants

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

Points to consider for sharing variant level information from clinical genetic testing with ClinVar

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

Modeling the ACMG/AMP variant classification gudielines as a Bayesian classification framework

ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

Somatic cancer variant curation and harmonization through consensus minimum variant level data

REVEL: An ensemble method for predicting the pathogenicity of rare missense variants

A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research

Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Using ClinVar as a Resource to Support Variant Interpretation

Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup

GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

ClinGen - The Clinical Genome Resource

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence

Lack of specificity of ACMG classification rules decreases inter-curator concordance. ClinGen's adaptation of ACMG's framework to standardize interpretation of MYH7 related cardiomyopathy variants.

Genomic variation: lessons learned from whole-genome CNV analysis

Characterizing genetic variants for clinical action

Chromosomal microarray impacts clinical management

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

Towards an evidence‐based process for the clinical interpretation of copy number variation