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

Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond.

BMC bioinformatics - 4 Dec 2024

Leist Ivo C, Rivas-Torrubia María, Alarcón-Riquelme Marta E, Barturen Guillermo, Consortium Precisesads Clinical, Gut Ivo G, Rueda Manuel

Abstract excerpt

BACKGROUND: Phenotypic data comparison is essential for disease association studies, patient stratification, and genotype-phenotype correlation analysis. To support these efforts, the Global Alliance for Genomics and Health (GA4GH) established Phenopackets v2 and Beacon v2 standards for storing, sharing, and discovering genomic and phenotypic data. These standards provide a consistent framework for organizing...

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 Genomics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Information Storage and Retrieval

Share to Phenotype

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 39633268
DOI: 10.1186/s12859-024-05993-2
PMCID: PMC11616229

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond.PMID 39633268Read ↗

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

PhenotypeToGeneDownloaderR: automated multi-source retrieval and validation of phenotype-associated genesSemantic proximity Read ↗

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

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

pyPheWAS: A Phenome-Disease Association Tool for Electronic Medical Record Analysis.Semantic proximity Read ↗

A System for Phenotype Harmonization in the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Program.Semantic proximity Read ↗

Gene-SCOUT: identifying genes with similar continuous trait fingerprints from phenome-wide association analyses.Semantic proximity Read ↗

GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets.Semantic proximity Read ↗

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

GA4GH Phenopackets: A Practical IntroductionSemantic proximity Read ↗

UKBAnalytica: an integrated R package for scalable phenotyping and reproducible epidemiological analysis within the UK Biobank Research Analysis PlatformSemantic proximity Read ↗

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

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