The varvis®software now supports long-read sequencing data analysis

Learn more about long-read sequencing data analysis in the varvis® software | Meet the team at the SPGH conference in Porto | November recap

Efficient long-read data analysis with the varvis® software

Short-read NGS technologies are most commonly used in human genetic diagnostics. However, their limitations have become apparent when dealing with challenging genomic regions such as genes and pseudogenes or in regions with high homology. For these so-called dark regions, additional genetic testing using orthogonal methods based on Sanger sequencing or PCR was required to unambiguously identify and interpret a specific genetic variant.

PacBio’s advanced HiFi long-read technologies provide the ability to highly accurately sequence these challenging regions. However, generating the data is only the first step—analyzing it efficiently is where the varvis® software comes in. 

Analyze long-reads with confidence

We are thrilled to announce that the varvis® software now supports the analysis of long-read sequencing data from PacBio, starting from raw data. With the varvis® software, you can:

• Perform SNV and Indel calling for dark regions, including phase information. This allows you to clearly determine whether variants are in cis or trans (e.g., for compound heterozygous variants).
• Streamline your laboratory workflow by replacing orthogonal methods with a single assay.
• Streamline your analysis by processing and reviewing short-read and long-read data in a single tool.
• Achieve accurate diagnosis and variant interpretation as performance evaluation results demonstrate high sensitivity and precision. We are proud that the data analysis is also included in the IVDR certificate of the varvis® software.

The clinical application of long-read sequencing is now facilitated by the varvis® software, which not only streamlines the analysis process but also enables the discovery of insights that are not accessible through traditional short-read tools. Get in touch to learn more and see for yourself. Schedule a demo.

SPGH conference in Porto

We are excited to meet the Human Genetics community of Portugal at the 28th Annual Meeting of the Sociedade Portuguesa de Genética Humana from December 5-7, 2024 in beautiful Porto. Team varvis® will contribute with a corporate session:

Exome diagnostics and beyond: How to navigate the NGS universe with confidence using the varvis® software

Thursday | Dec 5, 12:30 pm - 1:30 pm

PART I: How standardized filtering strategies accelerate exome diagnostics

Dr. Ximena Escalera Fanjul , Limbus Medical Technologies

PART II: Cabinet of curiosities: Detecting and interpretingextraordinary variants

Dr. Ben Liesfeld , Limbus Medical Technologies

If you are attending the SPGH Annual Meeting, be sure to stop by our booth and learn how varvis® can help you to accelerate your NGS workflow. Learn more.

NOVEMBER RECAP

varvis® User Group Meeting

On November 14 our varvis® User Group Meeting took place in Berlin, as well as virtually. We had a whole day packed with interesting contributions by the varvis® team, our awesome varvis® users, and our guests from PacBio. We enjoyed the friendly atmosphere and vivid exchange at the meeting that was rounded off with an exciting guided tour at the Deutsche Technikmuseum and a delicious dinner. Thank you to everybody who contributed to make this event so worthwhile and successful! We hope to welcome you again next year.

BVDH Herbsttagung

It was great to meet you at the fall meeting of the Professional Association of German Human Geneticists (BVDH) on November 15 & 16. We were happy to see so many of you at our satellite symposium on long-read sequencing data analysis with the IVDR class C certified varvis® software held by Dr. Ben Liesfeld. Thank you and see you at the next BVDH Herbsttagung!