Curation On-Demand Service for Genetic Testing Labs Debuts

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Genomenon, a genomic intelligence company, has launched Genomenon Curate-Pro, a rapid on-demand evidence curation and variant classification service for genetic testing labs. Genomenon Curate-Pro service leverages the company’s automation and genetic curation expertise to address the laborious and expensive variant research and curation challenges faced by genomic scientists, empowering them to focus on variant interpretation and high-value patient-facing reporting. This often leaves them with limited treatment options. However, the field of rare disease diagnosis has seen significant advances with the introduction of next-generation sequencing (NGS). Essential techniques like whole-exome sequencing (WES), whole-genome sequencing (WGS), and RNA sequencing (RNA-seq) are now routinely used for diagnosing and understanding these complex conditions. These methodologies offer a more thorough analysis of genetic variations and improve the identification and management of rare diseases. To better understand the current state of the field, we spoke with two leading experts about their groups’ contributions to rare disease diagnostics.

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