Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients.

ABSTRACT:

Objectives

To evaluate seven bioinformatics platforms for automated AI-based genomic variant prioritization and classification.

Methods

An evaluation was performed of 24 genetic variants that explained the phenotype of 20 patients. FASTQ files were simultaneously uploaded on the following bioinformatics platforms: Emedgene, eVai, Varsome Clinical, CentoCloud, QIAGEN Clinical Insight (QCI) Interpret, SeqOne and Franklin. Automated variant prioritization and classification was performed using patient phenotypes. Phenotypes were entered onto the different platforms using HPO terms. The classification of reference was established based on the criteria of the American College of Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology and ACMG/ClinGen guide

SUBMITTER: Bastida-Lertxundi N 

PROVIDER: S-EPMC11949535 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature