gene.iobio

gene.iobio provides real-time analysis and prioritization of genomic variants from exome and whole-genome sequencing to support clinical interpretation.


Key Features:

  • Real-Time Analysis: Performs real-time interrogation of genomic variants derived from sequencing data.
  • Clinically-Driven Prioritization: Prioritizes variants based on their potential clinical relevance to support diagnostic evaluation.
  • Support for WES/WGS: Processes exome (WES) and whole-genome sequencing (WGS) data for variant analysis.

Scientific Applications:

  • Clinical Diagnostics: Interpretation and prioritization of variants from WES/WGS to establish clinical diagnoses and inform patient care.

Methodology:

Real-time interrogation and prioritization of genomic variants from exome and whole-genome sequencing data.

Visit Official Homepage →

Topics

Exome sequencingGenomicsMedicineGenetic variationGenotype and phenotype

Details

Tool Type:
web application
Added:
1/18/2021
Last Updated:
1/22/2021

Operations

Publications

Di Sera T, Velinder M, Ward A, Qiao Y, Georges S, Miller C, Pitman A, Richards W, Ekawade A, Viskochil D, Carey JC, Pace L, Bale J, Clardy SL, Andrews A, Botto L, Marth G. gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. Unknown Journal. 2020. doi:10.1101/2020.11.05.20224865. PMID:33173897. PMCID:PMC7654889.

← Back to search