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

Pheno4J: a gene to phenotype graph database.

Bioinformatics (Oxford, England) - 15 Oct 2017

Mughal Sajid, Moghul Ismail, Yu Jing, Clark Tristan, Gregory David S, Pontikos Nikolas

Abstract excerpt

SUMMARY: Efficient storage and querying of large amounts of genetic and phenotypic data is crucial to contemporary clinical genetic research. This introduces computational challenges for classical relational databases, due to the sparsity and sheer volume of the data. Our Java based solution loads annotated genetic variants and well phenotyped patients into a graph database to allow fast efficient storage and...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Databases, Genetic
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Software

Source

Identifiers

PMID: 28633344
DOI: 10.1093/bioinformatics/btx397

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pheno4J: a gene to phenotype graph database.PMID 28633344Read ↗

Pheno4J: a gene to phenotype graph databaseSemantic proximity Read ↗

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.Semantic proximity Read ↗

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype dataSemantic proximity Read ↗

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian DisordersSemantic proximity Read ↗

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.Semantic proximity Read ↗

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicineSemantic proximity Read ↗

Integrating large-scale genotype and phenotype data.Semantic proximity Read ↗

PhenoScanner: a database of human genotype-phenotype associations.Semantic proximity Read ↗

Genotype Representation Graphs: Enabling Efficient Analysis of Biobank-Scale DataSemantic proximity Read ↗

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.Semantic proximity Read ↗

DNARecords: An extensible sparse format for petabyte scale genomics analysisSemantic proximity Read ↗

PhenoTips: patient phenotyping software for clinical and research use.Semantic proximity Read ↗

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