EDBT 2026 Demo / reviewers in the wild / expert
Benedetta Bigio
dblp:235/8518
· DBLP profile ↗
1ranked-venue papers
0as first author
0since 2021 · last 2018
—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 3 heaviest of 3, each with the papers that count most for it
| Topic | Weight | Papers | Last | Evidence papers |
|---|---|---|---|---|
Bioinformatics and computational biology
genomics |
0.3 | 1 | 2018 | PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations · Bioinform. 2018 |
Bioinformatics and computational biology › genome annotation
genomic variant annotation |
0.3 | 1 | 2018 | PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations · Bioinform. 2018 |
Bioinformatics and computational biology › genomics › genome visualization
variant visualization |
0.3 | 1 | 2018 | PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations · Bioinform. 2018 |
Methods — techniques the papers use, named apart from their topics
web server · 0.3
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2018 | PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variationsabstractSummary: Next-generation sequencing (NGS) generates large amounts of genomic data and reveals about 20 000 genetic coding variants per individual studied. Several mutation damage prediction scores are available to prioritize variants, but there is currently no application to help investigators to determine the relevance of the candidate genes and variants quickly and visually from population genetics data and deleteriousness scores. Here, we present PopViz, a user-friendly, rapid, interactive, mobile-compatible webserver providing a gene-centric visualization of the variants of any human gene, with (i) population-specific minor allele frequencies from the gnomAD population genetic database; (ii) mutation damage prediction scores from CADD, EIGEN and LINSIGHT and (iii) amino-acid positions and protein domains. This application will be particularly useful in investigations of NGS data for new disease-causing genes and variants, by reinforcing or rejecting the plausibility of the candidate genes, and by selecting and prioritizing, the candidate variants for experimental testing. Availability and implementation: PopViz webserver is freely accessible from http://shiva.rockefeller.edu/PopViz/. Supplementary information: Supplementary data are available at Bioinformatics online. Peng Zhang 0033, Benedetta Bigio, Franck Rapaport, Shen-Ying Zhang, Jean-Laurent Casanova, Laurent Abel, Bertrand Boisson, Yuval Itan |
Bioinform. | 2 |