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Liron Ganel

dblp:198/4599 · DBLP profile ↗
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1ranked-venue papers
1as first author
0since 2021 · last 2017
—ORCID · unresolved

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

Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author

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 1 heaviest of 1, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › statistical genetics › variant effect prediction
genetic variant effect prediction
0.312017
SVScore: an impact prediction tool for structural variation · Bioinform. 2017

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

SNP pathogenicity score aggregation · 0.3
YearPublicationVenuePosition
2017 SVScore: an impact prediction tool for structural variation
abstract
Summary: Here we present SVScore, a tool for in silico structural variation (SV) impact prediction. SVScore aggregates per-base single nucleotide polymorphism (SNP) pathogenicity scores across relevant genomic intervals for each SV in a manner that considers variant type, gene features and positional uncertainty. We show that the allele frequency spectrum of high-scoring SVs is strongly skewed toward lower frequencies, suggesting that they are under purifying selection, and that SVScore identifies deleterious variants more effectively than alternative methods. Notably, our results also suggest that duplications are under surprisingly strong selection relative to deletions, and that there are a similar number of strongly pathogenic SVs and SNPs in the human population. Availability and Implementation: SVScore is implemented in Perl and available freely at {{ http://www.github.com/lganel/SVScore }} for use under the MIT license. Contact: [email protected]. Supplementary information: Supplementary data are available at Bioinformatics online.
Liron Ganel, Haley J. Abel, Ira M. Hall
Bioinform.1