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Laura E. Egolf

dblp:301/4873 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2021
0000-0002-7103-4801ORCID · reported

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

Applied, interdisciplinary, general and emerging computing · 1 · 1 since 2021

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
0.512021
svpluscnv: analysis and visualization of complex structural variation data · Bioinform. 2021
Bioinformatics and computational biology › genomics › structural variation
structural variation analysis
0.512021
svpluscnv: analysis and visualization of complex structural variation data · Bioinform. 2021
Bioinformatics and computational biology › genomics › structural variation
copy number variant analysis
0.112021
svpluscnv: analysis and visualization of complex structural variation data · Bioinform. 2021

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

chromothripsis detection · 0.5chromoplexia detection · 0.5
YearPublicationVenuePosition
2021 svpluscnv: analysis and visualization of complex structural variation data
abstract
MOTIVATION: Despite widespread prevalence of somatic structural variations (SVs) across most tumor types, understanding of their molecular implications often remains poor. SVs are extremely heterogeneous in size and complexity, hindering the interpretation of their pathogenic role. Tools integrating large SV datasets across platforms are required to fully characterize the cancer's somatic landscape. RESULTS: svpluscnv R package is a swiss army knife for the integration and interpretation of orthogonal datasets including copy number variant segmentation profiles and sequencing-based structural variant calls. The package implements analysis and visualization tools to evaluate chromosomal instability and ploidy, identify genes harboring recurrent SVs and detects complex rearrangements such as chromothripsis and chromoplexia. Further, it allows systematic identification of hot-spot shattered genomic regions, showing reproducibility across alternative detection methods and datasets. AVAILABILITY AND IMPLEMENTATION: https://github.com/ccbiolab/svpluscnv. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Gonzalo López, Laura E. Egolf, Federico Manuel Giorgi, Sharon J. Diskin, Adam A. Margolin
Bioinform.2