Author

Maria Carla Pittalis

IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'OrsolaORCID 0000-0003-4663-3703Unclaimed 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 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alberto MagiiD· 1 shared Alessandra MingrinoiD· 1 shared Barbara GegaiD· 1 shared Davide BologniniiD· 1 shared Gianluca MatteiiD· 1 shared Laura DesiderioiD· 1 shared Pamela MaginiiD· 1 shared Patrizia Mongelli· 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

Alberto MagiORCID

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1 paper

Recent·Most cited

GenomicsJournal of Molecular DiagnosticsPeer-reviewedMay 5, 2022

Third Generation Cytogenetic Analysis (TGCA): diagnostic application of long-read sequencing.

Pamela Magini, Alessandra Mingrino, Barbara Gega…·Alberto Magi

This study demonstrates that long-read sequencing using Oxford Nanopore Technologies can rapidly and accurately detect pathogenic unbalanced structural variants with resolution comparable to traditional methods.

5 citations

humanwhole-genome sequencing

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