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REVEAL key structural variants in hematologic malignancies

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"REVEAL key structural variants in hematologic malignancies"

A revolution in cytogenomics driven by Optical Genome Mapping.

The State of the Field
Forward from Bionano President and Chief Executive Officer, Erik Holmlin, Ph.D

Cytogenetics has a problem.
Cytogeneticists are stuck in a cycle where—despite knowing that key pathogenic genomic variants must be present in hematological malignancy samples—they lack proper tools with the power to see many of them. Hematological malignancies are a major driver of cancer mortality and morbidity, and cytogenomic analysis is essential to understand the pathology of each case. The task, however, can be daunting, as finding key variants within a hematological malignancy is challenging.
This challenge arises largely because the variants are undetectable with many common cytogenomic approaches.

Traditionally, researchers in cytogenomics mix and match multiple methods, including karyotyping (KT), fluorescence in situ hybridization (FISH), and even microarrays. Together, this widely accepted cytogenomic standard slows cytogenecists down and reduces their discovery power. It’s clear that current technologies and workflows underperform when it comes to empowering researchers to move forward.

Problems in the cytogenetic lab lead to problems in the clinic. Advances in genetic analysis can lead to a better understanding of disease etiology. However, without the right tools and workflows for studying structural and numerical variants, I fear that progress will likely be limited. Cytogeneticists deserve to have solutions that meet modern technological capabilities. The field is ready to move forward—to finally reveal critical variants that can drive progress in healthcare.

At Bionano, our goal is to transform the way the world sees the genome in order to assist researchers as they lead the charge in the cytogenomic revolution and breathe fresh life into this critical field. Over the following pages, I hope it will become clear that the field is ready for a new paradigm and that optical genome mapping (OGM) provides the advancement that the cytogenomics field has long awaited. Together, with the skill and knowledge of cytogeneticists and our novel solutions, researchers can finally answer critical questions in biology and medicine and one day be a part of elevating the health of humans worldwise.

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