On May 27, 2017, we arrived in Copenhagen, Denmark, for the European Society of Human Genetics Conference (ESHG). This year’s event marked the 50th anniversary of the conference. While we haven’t been attending for all 50 years, every time we attend this event, we find it an invaluable opportunity to connect with researchers from across Europe and the globe.

This year, we were thrilled to share the unmatched large structural variation detection capabilities of our new Saphyr™ system. While there are a variety of approaches for calling variants, no other method provides automated identification and analysis of structural variations larger than 1000 base pairs at the sensitivity of the Bionano Saphyr platform.

During the event, we also introduced Bionano Access™, our new web-based hub for experiment management, which provides automated structural variation calling and genome assembly. Additionally, two posters were presented by the Bionano team detailing Saphyr’s capabilities for structural variation (SV) calling:

A.W.C. Pang, K. Sugerman, J. Lee, M. Austin, M. Saghbini, A. Hastie, H. Cao, M. Borodkin, G. Papoutsoglou

Bionano introduces our new Variant Annotation Pipeline that examines genome map calls to identify candidate disease-associated SVs. We show results of the analysis of ten samples with hematological malignancies and demonstrate the ability to detect known rearrangements and to uncover novel mutations. We also use the Variant Annotation Pipeline on a family with an undiagnosed neurological disorder and identified large structural variations shared by the affected children.

Hastie, A.W.C. Pang, J. Lee, E.T. Lam, T. Anantharaman, W. Andrews, M. Saghbini, H. Cao

Bionano presents several in silico and biological validation experiments to demonstrate the sensitivity and specificity of NGM for insertion, deletion, and translocation SVs, and compare them to benchmark studies using short-read and long-read sequencing. We also show the application of NGM to studying somatic variation in a breast cancer cell line, finding hundreds of somatic structural variations. Finally, we applied NGM to several leukemia patient samples to find more than 50 cancer-related SVs in each patient.

Throughout the event, it was clear that researchers in all areas, especially human clinical research, are searching for more efficient and highly sensitive methods for understanding structural variation and genome structure.

In addition to Saphyr’s structural variation calling, its ability to align and correct NGS-based assemblies was of great interest to showgoers.

For 50 years, ESHG has done an incredible job of bringing the global genomics research community together to explore the latest findings in the field of basic and applied human genetics. We look forward to being part of the next 50.

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