Author

Daniela Francesca Giachino

University of TurinORCID 0000-0002-3186-6726Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Edwin P. J. G. CuppeniD· 2 shared Jerome KorzeliusiD· 2 shared Markus J. van RoosmaleniD· 2 shared Michael E. TalkowskiiD· 2 shared Sjors MiddelkampiD· 2 shared Wigard P. KloostermaniD· 2 shared Ellen van BinsbergeniD· 1 shared Ewart de BruijniD· 1 shared

Activity by Year

2017-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersGenomics

Edwin P. J. G. CuppenORCID

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2 papers

Recent·Most cited

GenomicsGenome MedicinePeer-reviewedDec 1, 2019

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Sjors Middelkamp, Judith M. Vlaar, Jacques C. Giltay…·Edwin P. J. G. Cuppen

This study prioritizes driver genes in patients with de novo genomic structural variants using integrative analysis of WGS data, phenotype information, and chromatin organization datasets.

26 citations

humanwhole-genome sequencing

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GenomicsNature CommunicationsPeer-reviewedOct 31, 2017

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

Mircea Cretu-Stancu, Markus J. van Roosmalen, Ivo Renkens…·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.

404 citationstop 1%

humanwhole-genome sequencing

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