Annotations have been a hot topic recently, and with good reason. As we hone our use of artificial intelligence (AI) and improve the VarSeq suite in general, a solid foundation of curated inputs remains essential to processing genomic data efficiently and accurately. One powerful tool for separating signal from noise is the gene panel: it lets users narrow the entire genomic search space to user- or expert-curated genes known to be relevant to a given disorder or phenotype. While we’ve always worked to keep this tool robust and versatile, we’re excited to announce current and upcoming improvements to our gene panel management interface that give users more freedom and access to more information than ever.
Current VarSeq users are familiar with creating custom gene panels, selecting from high-value panels such as ACMG Secondary Findings and ACMG Carrier Screening, and querying PanelApp UK. The main upgrade in VarSeq 3.1.0 is the ability to choose expert-curated panels from sources beyond PanelApp UK, so you can pick the ones specific to your region or to the phenotypes and disorders in your workflow. Alongside this, we’ve curated and shipped PanelApp Australia, which users can now browse at the click of a button.
PanelApp Australia includes 6,498 unique genes across 261 panels. Of these, 1,118 genes don’t appear in PanelApp UK at all, and 595 genes carry a Green (diagnostic-grade) rating in PanelApp Australia but not in PanelApp UK, many of them from its Mendeliome, Infertility and Recurrent Pregnancy Loss, and neurodevelopmental panels. PanelApp Australia also cites 12,673 PubMed articles not referenced by PanelApp UK.
While users can put these tools to work immediately in VarSeq 3.1.0, we look forward to the conversations these expanded capabilities will spark — which further sources we should curate to move the needle for specific groups, and how these tools enable faster, more precise results.
Curious to explore VarSeq’s gene panel capabilities and the rest of the suite, or have questions about this or future updates? Reach out to us at [email protected]!
