Author

Giulia Pregno

University of Turin

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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Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Daniela Francesca GiachinoiD· 1 shared Edwin P. J. G. CuppeniD· 1 shared Ewart de BruijniD· 1 shared Giorgia MandrileiD· 1 shared Ivo Renkens· 1 shared Jeroen de RidderiD· 1 shared Jerome KorzeliusiD· 1 shared Joep de LigtiD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Daniela Francesca GiachinoORCID

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1 paper

Recent·Most cited

Mapping And Phasing Of Structural Variation In Patient Genomes Using Nanopore Sequencing

Mircea Cretu-Stancu, Markus J. van Roosmalen, Ivo Renkens, Marleen M. Nieboer, Sjors Middelkamp, Joep de Ligt, Giulia Pregno, Daniela Francesca Giachino, Giorgia Mandrile, Jose Espejo Valle-Inclán, Jerome Korzelius, Ewart de Bruijn, Edwin P. J. G. Cuppen, Michael E. Talkowski, Tobias Marschall, , Wigard P. Kloosterman

This study uses nanopore sequencing to detect and phase structural variants in patient genomes, identifying novel variants missed by short-read sequencing.

Nature Communications · Oct 31, 2017Peer-reviewedGenomics