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

Overview of attention for article published in Genome Medicine, November 2019

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So far, Dimensions has found 37 publications that cite this research output.

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Incorporating functional genomics into the pathology-supported genetic testing framework implemented in South Africa: A future view of precision medicine for breast carcinomas

Article in Mutation Research/Reviews in Mutation Research (April 2024)

The PS4-Likelihood Ratio Calculator: Flexible allocation of evidence weighting for case-control data in variant classification

Preprint in medRxiv (April 2024)

Preparing to Integrate Generative Pretrained Transformer Series 4 models into Genetic Variant Assessment Workflows: Assessing Performance, Drift, and Nondeterminism Characteristics Relative to Classifying Functional Evidence in Literature

Preprint in arXiv (December 2023)

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