Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patientsNerea Bastida-Lertxundion March 31, 2025 at 10:00 am
Adv Lab Med. 2025 Mar 10;6(1):28-36. doi: 10.1515/almed-2025-0031. eCollection 2025 Mar. 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 … Read more