Author

Marc A. Di Meo

Johns Hopkins University

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Biology Disciplines

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Genomics· 1

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Research Focus:benchmarking· 1 Approach:deep learning· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

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David L. Masica· 1 shared Howard J. JacobiD· 1 shared Maansi AsthanaiD· 1 shared Michele CeccarelliiD· 1 shared Robert T. McLaughliniD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

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1 shared paperGenomics

David L. Masica

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintDec 7, 2021

Attentive deep learning-based tumor-only somatic mutation classifier achieves high accuracy agnostic of tissue type and capture kit.

Robert T. McLaughlin, Maansi Asthana, Marc A. Di Meo…·David L. Masica

The paper develops a deep learning classifier to distinguish somatic and germline mutations in tumor-only samples, achieving high accuracy across tissue types and reducing racial bias in TMB estimates.

1 citation

humanwhole-exome sequencing

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