September 10, 2025Open Access

Genomize-SEQ: An NGS data analysis platform for genomic variant classification and prioritization

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Novel tool enhances genomic variant prioritization in rare diseases, suggesting improved diagnosis.

Genomize-SEQ identified causative variants with a 97% success rate in clinical genomics analysis.
Using real-world whole-exome sequencing data, 52% of identified variants were ranked highest in priority.
Efficiently aggregates data from over 120 databases for accurate variant annotation according to ACMG guidelines.
Supports variant analysis in underrepresented populations, improving diagnostic capabilities for rare diseases.

Kavak et al. (2025) studied this question.

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