Author

Rosa M. Xicola

Yale University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Joanna A. GibsoniD· 2 shared Xavier LloriD· 2 shared Amanda Ganzak· 1 shared Antònia Obrador‐HeviaiD· 1 shared Catherine MezzacappaiD· 1 shared Chinedu I. UkaegbuiD· 1 shared Cristina AlendaiD· 1 shared Elena M. StoffeliD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Joanna A. GibsonORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedSep 17, 2022

A systems approach to enhance Lynch syndrome diagnosis through tumor testing

Vinit Singh, Catherine Mezzacappa, Peter Gershkovich…·Xavier Llor

This paper develops a systems approach to improve Lynch syndrome diagnosis by enhancing tumor testing and referral processes, resulting in increased genetic testing and LS diagnosis rates.

10 citations

humanstatistical model

𝕏 PostBluesky

GenomicsbioRxivPreprintSep 28, 2021

Mutational signature profiling classifies subtypes of clinically different mismatch repair deficient tumors with a differential immunogenic response potential

Mar Giner-Calabuig, Seila De Leon, Julian Wang…·Rosa M. Xicola

This study classifies MMR-deficient tumors into subtypes based on mutational signatures and immunogenic potential, revealing clinical and molecular differences.

DOI 10.1101/2021.09.28.460630

humanwhole-exome sequencing

𝕏 PostBluesky