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Tony Roscioli

dblp:232/6176 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2019
—ORCID · unresolved

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 1 heaviest of 2, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genome annotation
genomic variant annotation
0.412019
Seave: a comprehensive web platform for storing and interrogating human genomic variation · Bioinform. 2019

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

in silico pathogenicity prediction · 0.4
YearPublicationVenuePosition
2019 Seave: a comprehensive web platform for storing and interrogating human genomic variation
abstract
Motivation: Genome sequencing has had a remarkable impact on our ability to study the effects of human genetic variation, however, variant interpretation remains the major bottleneck. Understanding the potential impact of variants, including structural variants, requires extensive annotation from disparate sources of knowledge, and in silico prediction algorithms. Results: We introduce Seave, an intuitive web platform that enables all types of variants to be securely stored, annotated and filtered. Variants are annotated with allele frequencies and pathogenicity assessments from many popular databases and in silico pathogenicity prediction scores. Seave enables filtering of variants with specific inheritance patterns, including somatic variants, by quality, allele frequencies and gene lists which can be curated and saved. Seave was made for whole genome data and is capable of storing and querying copy number and structural variants. Availability and implementation: To demo Seave with public data, see https://www.seave.bio. Source code is available at http://code.seave.bio and extensive documentation is available at http://documentation.seave.bio. Seave can be locally installed on an Apache server with PHP and MySQL, or we provide an Amazon Machine Image for quick deployment. For commercial and clinical diagnostic licensing, contact the corresponding author. Supplementary information: Supplementary data are available at Bioinformatics online.
Velimir Gayevskiy, Tony Roscioli, Marcel E. Dinger, Mark J. Cowley
Bioinform.2