Deborah Ritter

The paper describes the development of variant classification specifications for the VHL gene using ACMG/AMP guidelines, resulting in updated evidence codes and improved classification consistency.

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

The paper establishes frequency criteria for secondary findings genes to improve variant classification consistency by setting disease allele frequency thresholds for 58 monogenic disease entities.

The paper compares germline and somatic variants in 40 tumor suppressor genes, finding distinct mutational patterns and locations shaped by different selection pressures.

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.

The paper describes the evolution of the CIViC knowledgebase to meet the needs of the cancer variant interpretation community by expanding its functionality and data types.

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 harmonizes clinical interpretations of cancer genomic variants across six knowledgebases, improving overlap and matching with patient cohorts.

The paper describes the CIViC knowledge model and curation procedures for systematically organizing and interpreting cancer-related genetic variants.

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 describes the development of standards for cancer variant interpretation and sharing through the ClinGen Cancer Somatic Working Group.