Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Towards linked open gene mutations data.

BMC bioinformatics - 28 Mar 2012

Zappa Achille, Splendiani Andrea, Romano Paolo

Abstract excerpt

BACKGROUND: With the advent of high-throughput technologies, a great wealth of variation data is being produced. Such information may constitute the basis for correlation analyses between genotypes and phenotypes and, in the future, for personalized medicine. Several databases on gene variation exist, but this kind of information is still scarce in the Semantic Web framework. In this paper, we discuss issues...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Databases, Genetic
Share to Genes, p53
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Internet

Share to Mutation

Share to Semantics

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 22536974
DOI: 10.1186/1471-2105-13-S4-S7
PMCID: PMC3303732

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Towards linked open gene mutations data.PMID 22536974Read ↗

The IARC TP53 database: new online mutation analysis and recommendations to users.Semantic proximity Read ↗

IARC p53 mutation database: a relational database to compile and analyze p53 mutations in human tumors and cell lines. International Agency for Research on Cancer.Semantic proximity Read ↗

Algorithms and semantic infrastructure for mutation impact extraction and grounding.Semantic proximity Read ↗

Unified access to mutation databases.Semantic proximity Read ↗

Exploring Disease Model Mouse Using Knowledge Graphs: Combining Gene Expression, Orthology, and Disease DatasetsSemantic proximity Read ↗

MUTbase: maintenance and analysis of distributed mutation databases.Semantic proximity Read ↗

Variant annotation in RDF for clinical trials matchingSemantic proximity Read ↗

Variant representation in RDFSemantic proximity Read ↗

Wikidata as a semantic framework for the Gene Wiki initiativeSemantic proximity Read ↗

Isomorphic semantic mapping of variant call format (VCF2RDF).Semantic proximity Read ↗

Enhanced semantic access to the protein engineering literature using ontologies populated by text mining.Semantic proximity Read ↗

Web services and workflow management for biological resources.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.