Developer

This webserver was released by the author of the DOI: 10.1093/bioinformatics/btad517 .

Benchmark Data

This method was evaluated on 6085 cases from Deciphering Developmental Disorders project and 187 cases from Shanghai Children's hospital.

Benchmark Result

Workflow

Here we introduce diseaseGPS, an integrated platform for the diagnosis of genetic disorders that combines both phenotype and genotype data for analysis. It offers not only a user-friendly GUI web application for those without a programming background but also scripts that can be executed in batch mode for bioinformatics professionals. The genetic and phenotypic data are integrated using the ACMG-Bayes method and a novel phenotypic similarity method, to prioritize the results of genetic disorders.

Reference

Huang D, Jiang J, Zhao T, Wu S, Li P, Lyu Y, Feng J, Wei M, Zhu Z, Gu J, Ren Y, Yu G, Lu H. diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype. Bioinformatics. 2023 Sep 2;39(9):btad517. doi: 10.1093/bioinformatics/btad517. PMID: 37647638; PMCID: PMC10500091.

Example Case

Editing...

Versions

v2.0 Diagnosis based on both genetic data (vcf file) and phenotype data (HPO term)
v1.0 Diagnosis based on genetic data(vcf file)

Usage