Author

Shaung Cheng

Stanford Medicine

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Genetic & Genomic Medicine· 1

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Approach:benchmark study· 1 Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aleksander Milosavljevic· 1 shared Alice B. PopejoyiD· 1 shared Arturo López PinedaiD· 1 shared Bryan Wulf· 1 shared Carlos D. BustamanteiD· 1 shared Christine G. Preston· 1 shared Deborah RitteriD· 1 shared Diane B. ZastrowiD· 1 shared

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2022-2022 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Aleksander Milosavljevic

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedJan 17, 2022

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines

Christine G. Preston, Matt W. Wright, Rao Madhavrao…·Helio A. Costa

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.

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humanwhole-exome sequencing

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