Author

Roberto Massa

University of Rome Tor VergataORCID 0000-0001-7523-6956Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Annalisa BottaiD· 1 shared Chiara Degli Esposti· 1 shared Federica CentofantiiD· 1 shared Giuseppe NovelliiD· 1 shared Luca De AntoniiD· 1 shared Maria Rosaria D’ApiceiD· 1 shared Marzia RossatoiD· 1 shared Massimiliano Alfano· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Annalisa BottaORCID

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1 paper

Recent·Most cited

GenomicseLifePeer-reviewedAug 26, 2022

Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing

Massimiliano Alfano, Luca De Antoni, Federica Centofanti…·Marzia Rossato

This study characterizes full-length CNBP repeat expansions in DM2 patients using Cas9-mediated nanopore sequencing, revealing novel repeat patterns and mosaicism.

35 citations

humanlong-read sequencing

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