Matt W. Wright

The paper describes international workshops training variant scientists on the ClinGen Variant Curation Interface (VCI) and reports on its usage and costs.

The paper introduces the ClinGen Variant Curation Interface, a platform for applying ACMG/AMP guidelines to classify genetic variants, enabling collaboration and standardization in clinical variant interpretation.

This study evaluates how in silico predictors influence clinical variant classification, finding that PP3 and BP4 criteria are frequently applied and often affect variant classifications.

The paper highlights the lack of standard definitions and protocols for collecting and using race, ethnicity, and ancestry data in clinical genetics and precision medicine.

The paper provides structured recommendations for applying the PS3/BS3 functional evidence criteria in variant interpretation using the ACMG/AMP framework, including a four-step framework and minimum control requirements.

The paper analyzes REA data collection practices and disparities in gnomAD, highlighting the need for standardized frameworks to improve diversity and variant interpretation in clinical genomics.

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.