Author

Matilde Borio

Memorial Sloan Kettering Cancer CenterORCID 0009-0000-3902-6054Unclaimed ORCID profile · follow to get notified of new preprints

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Matilde Borio2 papers · Salk Institute for Biological Studies

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Darren Richard FeldmaniD· 1 shared Kenneth OffitiD· 1 shared Melissa KrameriD· 1 shared Robert L. Wappel· 1 shared Sara GoodwiniD· 1 shared William Richard McCombieiD· 1 shared Zsofia Kinga StadleriD· 1 shared

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2024-2024 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperGenomics

Darren Richard FeldmanORCID

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintJun 27, 2024

Exploring the genetic and epigenetic underpinnings of early-onset cancers: Variant prioritization for long read whole genome sequencing from family cancer pedigrees

Melissa Kramer, Sara Goodwin, Robert L. Wappel…·William Richard McCombie

This study uses long-read whole genome sequencing from family cancer pedigrees to prioritize genetic variants in early-onset cancers, identifying potential disease-causing mutations.

1 citation

humanwhole-genome sequencing

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