Author

J. Carl Barrett

AstraZeneca (United States)ORCID 0000-0003-4042-9859Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Zhongwu LaiiD· 2 shared Aleksandr Sidoruk· 1 shared Aleksandra A. MarkovetsiD· 1 shared Brad ChapmaniD· 1 shared Brian Andrew DoughertyiD· 1 shared Daniel StetsoniD· 1 shared David F. JenkinsiD· 1 shared Etai JacobiD· 1 shared

Activity by Year

2017-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersBioinformatics

Zhongwu LaiORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintDec 11, 2024

An artificial intelligence-based model for prediction of Clonal Hematopoiesis mutants in cell-free DNA samples

Gustavo Arango-Argoty, Marzieh Haghighi, Gerald J. Sun…·Etai Jacob

The paper presents a machine learning framework to classify variants in cell-free DNA as clonal hematopoiesis or tumor origin, achieving better classification rates than existing methods.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsPeerJPeer-reviewedApr 4, 2017

Prioritisation of Structural Variant Calls in Cancer Genomes

Miika J. Ahdesmaki, Brad Chapman, Pablo Cingolani…·Justin H. Johnson

The paper introduces a tiered prioritisation approach to identify high-impact gene fusions in cancer genomes by improving variant annotation, interpretation, and visualisation.

21 citations

humanwhole-genome sequencing

𝕏 PostBluesky