Demo Data from EDBT 2026 / reviewers in the wild / expert
Mathias Gautel
dblp:209/8033
· DBLP profile ↗
1ranked-venue papers
0as first author
0since 2021 · last 2017
0000-0003-4027-9803ORCID · reported
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 › computational genomics
missense variant pathogenicity prediction |
0.3 | 1 | 2017 | TITINdb - a computational tool to assess titin's role as a disease gene · Bioinform. 2017 |
Bioinformatics and computational biology › clinical bioinformatics
variant interpretation |
0.3 | 1 | 2017 | TITINdb - a computational tool to assess titin's role as a disease gene · Bioinform. 2017 |
Bioinformatics and computational biology › statistical genetics
disease gene analysis |
0.1 | 1 | 2017 | TITINdb - a computational tool to assess titin's role as a disease gene · Bioinform. 2017 |
Methods — techniques the papers use, named apart from their topics
non-synonymous variant impact prediction · 0.3
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2017 | TITINdb - a computational tool to assess titin's role as a disease geneabstractSUMMARY: Large numbers of rare and unique titin missense variants have been discovered in both healthy and disease cohorts, thus the correct classification of variants as pathogenic or non-pathogenic has become imperative. Due to titin's large size (363 coding exons), current web applications are unable to map titin variants to domain structures. Here, we present a web application, TITINdb, which integrates titin structure, variant, sequence and isoform information, along with pre-computed predictions of the impact of non-synonymous single nucleotide variants, to facilitate the correct classification of titin variants. AVAILABILITY AND IMPLEMENTATION: TITINdb can be freely accessed at http://fraternalilab.kcl.ac.uk/TITINdb. CONTACT: [email protected]. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Anna Laddach, Mathias Gautel, Franca Fraternali |
Bioinform. | 2 |