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Mathias Gautel

dblp:209/8033 · DBLP profile ↗
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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

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics › computational genomics
missense variant pathogenicity prediction
0.312017
TITINdb - a computational tool to assess titin's role as a disease gene · Bioinform. 2017
Bioinformatics and computational biology › clinical bioinformatics
variant interpretation
0.312017
TITINdb - a computational tool to assess titin's role as a disease gene · Bioinform. 2017
Bioinformatics and computational biology › statistical genetics
disease gene analysis
0.112017
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
YearPublicationVenuePosition
2017 TITINdb - a computational tool to assess titin's role as a disease gene
abstract
SUMMARY: 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