Published May 18, 2023 | Version v1
Journal article Open

ClinPrior: An algorithm for diagnosis and novel gene discovery by network-based prioritization

Description

We developed ClinPrior, a novel method for the analysis of WES/WGS data that ranks candidate causal variants based on the patient’s standardized phenotypic features and subjects the data to interactome network-based prioritization. This algorithm was thoroughly benchmarked using a synthetic patient-cohort, and was subsequently tested on a widely heterogeneous prospective, real-world series of 135 families affected by Hereditary Spastic Paraplegia (HSP) and/or Cerebellar Ataxia (CA).

Data available in this repository:

  • A Pheno dataset containing 82 patients with the causal gene and associated patient HPO terms.
  • A ClinVar dataset containing 66,800 pathogenic variants in a VCF file.
  • Benchmark: The optimal number of HPOs required for gene prioritization in 82 patients from a real-world cohort.
  • Benchmark: The results of prioritizing known and candidate disease genes using ClinPrior in 66,800 synthetic WES analysed.

 

 

 

 

Files

Zenodo.zip

Files (16.4 MB)

Name Size Download all
md5:d5b7b6d1f677cbbda97c19d74d3d6a78
16.4 MB Preview Download