Author

Ronak Y. Patel

Baylor College of MedicineORCID 0000-0001-8111-7363Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 3 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alex Handler WagneriD· 2 shared Deborah RitteriD· 2 shared Heidi L. RehmiD· 2 shared Lawrence J. BabbiD· 2 shared Malachi GriffithiD· 2 shared Obi L. GriffithiD· 2 shared Adam C. CoffmaniD· 1 shared Aleksandar MilosavljevićiD· 1 shared

Activity by Year

2021-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersBioinformatics

Alex Handler WagnerORCID

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3 papers

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.

81 citationstop 1%

humanwhole-exome sequencing

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BioinformaticsCell GenomicsPeer-reviewedNov 1, 2021

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation

Alex Handler Wagner, Lawrence J. Babb, Gil Alterovitz…·Reece K. Hart

The paper introduces the GA4GH Variation Representation Specification (VRS), a framework for precise and federated representation of molecular variation, with a reference implementation and community resources available online.

62 citationstop 3%

whole-genome sequencingdatabase / resource

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GenomicsbioRxivPreprintJun 13, 2021

Evolution of the open-access CIViC knowledgebase is driven by the needsof the cancer variant interpretation community

Kilannin Krysiak, Arpad M. Danos, Susanna Kiwala…·Malachi Griffith

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.

DOI 10.1101/2021.06.13.448171

database / resource

𝕏 PostBluesky