Steven M. Harrison

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

Genomic data in the All of Us Research Program

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

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

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

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

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

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

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

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

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

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

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

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