GenoPheno
GenoPheno catalogs large-scale datasets that integrate genomic sequencing (whole genome sequencing and whole exome sequencing) and clinical phenotypic data to support precision medicine research.
Key Features:
- Dataset integration: Integrates genotypic (whole genome sequencing and whole exome sequencing) and clinical phenotypic data from the same subjects.
- Inclusion criteria: Datasets contain more than 500 human subjects, integrate genotypic (whole genome or whole exome sequencing) and phenotypic data, and include at least 100 recorded phenotypic variables per subject.
- Catalog composition: The catalog comprises 30 datasets that were reviewed and included based on the specified inclusion criteria.
- Community curation: Supports review and contribution of new datasets for inclusion in the catalog.
Scientific Applications:
- Optimized Diagnosis: Provides integrated genomic and phenotypic data to aid identification of precise diagnostic markers.
- Tailored Treatment Plans: Enables development of personalized therapeutic strategies informed by individual genomic and phenotypic profiles.
- Improved Prognosis: Supports prediction of patient outcomes through analysis of combined genotypic and phenotypic datasets.
Methodology:
Review and curation of available datasets against the specified inclusion criteria, resulting in the identification and inclusion of 30 reviewed datasets; the catalog is updated as new datasets are contributed.
Topics
Details
- License:
- Apache-2.0
- Tool Type:
- library, web application
- Programming Languages:
- R
- Added:
- 1/18/2021
- Last Updated:
- 1/22/2021
Operations
Publications
Gutiérrez-Sacristán A, De Niz C, Kothari C, Kong SW, Mandl KD, Avillach P. GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets. Briefings in Bioinformatics. 2020;22(1):55-65. doi:10.1093/bib/bbaa033. PMID:32249310. PMCID:PMC7820848.
DOI: 10.1093/BIB/BBAA033
PMID: 32249310
Funding: - National Institutes of Health: U01TR002623, U54HG007963