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Giuseppina Marseglia

dblp:122/7232 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2012
—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 2 heaviest of 2, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › transcriptomics › RNA-seq analysis
fusion transcript detection
0.112012
Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript · Bioinform. 2012
Bioinformatics and computational biology › transcriptomics
RNA-seq analysis
0.112012
Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript · Bioinform. 2012

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

simulation · 0.1
YearPublicationVenuePosition
2012 Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript
abstract
Abstract Motivation: The discovery of novel gene fusions can lead to a better comprehension of cancer progression and development. The emergence of deep sequencing of trancriptome, known as RNA-seq, has opened many opportunities for the identification of this class of genomic alterations, leading to the discovery of novel chimeric transcripts in melanomas, breast cancers and lymphomas. Nowadays, few computational approaches have been developed for the detection of chimeric transcripts. Although all of these computational methods show good sensitivity, much work remains to reduce the huge number of false-positive calls that arises from this analysis. Results: We proposed a novel computational framework, named chimEric tranScript detection algorithm (EricScript), for the identification of gene fusion products in paired-end RNA-seq data. Our simulation study on synthetic data demonstrates that EricScript enables to achieve higher sensitivity and specificity than existing methods with noticeably lower running times. We also applied our method to publicly available RNA-seq tumour datasets, and we showed its capability in rediscovering known gene fusions. Availability: The EricScript package is freely available under GPL v3 license at http://ericscript.sourceforge.net. Contact: [email protected] Supplementary information: Supplementary data are available at Bioinformatics online.
Matteo Benelli, Chiara Pescucci, Giuseppina Marseglia, Marco Severgnini, Francesca Torricelli, Alberto Magi
Bioinform.3