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.

PMID: 32249310
Funding: - National Institutes of Health: U01TR002623, U54HG007963

Links