Article

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

2025-09-07

Abstract excerpt

Accurate interpretation of diverse genetic variants remains a pivotal challenge in the diagnosis of rare diseases. Although evidence-based guidelines established by the American College of Medical Genetics and Genomics have enhanced the precision of variant assessment, the practical implementation of this evidence-based classification can be challenging. The inherent genetic heterogeneity in rare diseases, coupled...

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Literature Corpus work: 09b327ac-82ff-57ac-84e5-ffaa71295368
DOI: 10.1101/2025.09.05.25335160

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