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Stefania Bonifacio

dblp:254/3555 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2019
—ORCID · none

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 100%

Topics — the 3 heaviest of 3, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › cancer genomics › copy number analysis
copy number alteration detection
0.412019
Nano-GLADIATOR: real-time detection of copy number alterations from nanopore sequencing data · Bioinform. 2019
Bioinformatics and computational biology
genomics
0.412019
Nano-GLADIATOR: real-time detection of copy number alterations from nanopore sequencing data · Bioinform. 2019
Bioinformatics and computational biology › sequence analysis
nanopore sequencing
0.412019
Nano-GLADIATOR: real-time detection of copy number alterations from nanopore sequencing data · Bioinform. 2019

Methods — techniques the papers use, named apart from their topics

probabilistic approach · 0.4
YearPublicationVenuePosition
2019 Nano-GLADIATOR: real-time detection of copy number alterations from nanopore sequencing data
abstract
MOTIVATION: The past few years have seen the emergence of nanopore-based sequencing technologies which interrogate single molecule of DNA and generate reads sequentially. RESULTS: In this paper, we demonstrate that, thanks to the sequentiality of the nanopore process, the data generated in the first tens of minutes of a typical MinION/GridION run can be exploited to resolve the alterations of a human genome at a karyotype level with a resolution in the order of tens of Mb, while the data produced in the first 6-12 h allow to obtain a resolution comparable to currently available array-based technologies, and thanks to a novel probabilistic approach are capable to predict the allelic fraction of genomic alteration with high accuracy. To exploit the unique characteristics of nanopore sequencing data we developed a novel software tool, Nano-GLADIATOR, that is capable to perform copy number variants/alterations detection and allelic fraction prediction during the sequencing run ('On-line' mode) and after experiment completion ('Off-line' mode). We tested Nano-GLADIATOR on publicly available ('Off-line' mode) and on novel whole genome sequencing dataset generated with MinION device ('On-line' mode) showing that our tool is capable to perform real-time copy number alterations detection obtaining good results with respect to other state-of-the-art tools. AVAILABILITY AND IMPLEMENTATION: Nano-GLADIATOR is freely available at https://sourceforge.net/projects/nanogladiator/. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Alberto Magi, Davide Bolognini, Niccoló Bartalucci, Alessandra Mingrino, Roberto Semeraro, Luna Giovannini, Stefania Bonifacio, Daniela Parrini, Elisabetta Pelo, Francesco Mannelli, Paola Guglielmelli, Alessandro Maria Vannucchi
Bioinform.7