Author

Lisa M. Vincent

Natera (United States)ORCID 0000-0003-1348-7738Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Organism:human· 1 Research Focus:software / tool· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexander Y. Tchourbanov· 1 shared Alicia B. ByrneiD· 1 shared Amanda B. SpurdleiD· 1 shared Amanda S. LindyiD· 1 shared Andrew R. GrantiD· 1 shared Ashley A. Cass· 1 shared Brandon J. Cushman· 1 shared Bruce D. GelbiD· 1 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander Y. Tchourbanov

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 24, 2023

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins…·Amanda B. Spurdle

The paper refines ACMG/AMP splicing variant classification codes using empirical evidence to improve consistency in variant pathogenicity classification.

20 citations

statistical modelvariant effect prediction

𝕏 PostBluesky

GeneticsHuman MutationPeer-reviewedOct 11, 2018

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

Andrew R. Grant, Brandon J. Cushman, Hélène Cavé…·Martin Zenker

The paper curates and scores gene-disease associations for 19 genes related to RASopathies using the ClinGen framework, classifying their associations as definitive, strong, moderate, limited, disputed, or no evidence.

99 citations

humanstatistical model

𝕏 PostBluesky