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Bionano Genomics Announces Back-to-Back Publications in the American Journal of Human Genetics that Compare Optical Genome Mapping to Traditional Methods for Structural Variant Analysis in Inherited Genetic Disease and Hematological Malignancies
SAN DIEGO, July 07, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that two peer-reviewed studies from world renowned
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[{"type":"text","content":"SAN DIEGO, July 07, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that two peer-reviewed studies from world renowned scientists and clinicians from prestigious institutions in Europe including Radboud University Medical Center, Cochin Hospital in Paris, Hospices Civils in Lyon and the University Hospital of Clermont-Ferrand were published back-to-back in the American Journal of Human Genetics. One study analyzed the genomes of patients with inherited genetic disease and one study those of hematological malignancies. These seminal papers outline the utility of optical genome mapping (OGM) as a superior alternative to traditional methods for structural variant (SV) analysis. The results showed OGM was 100% concordant with findings from fluorescent in-situ hybridization (FISH), karyotype, and CNV-microarray when these traditional methods identified one or more pathogenic variants in samples from study subjects. Additionally, the higher resolution of OGM for all types of variants relative to traditional cytogenomics techniques allowed for a more precise characterization of breakpoints and the identification of genes they affect, the detection of smaller cancer-associated events that usually escape detection by traditional means, and the discovery of additional complexity of rearrangements. These publications will appear in the August print issue and are available online today at http://www.cell.com/ajhg Number of Chromosomal Aberrations IdentifiedConcordant Aberrations Detected Study Clinical Research ApplicationNumber ofPatientsTraditionalMethods(FISH,KT,Array)OGMOGM Sensitivityvs. TraditionalMethodsDelsDupsTrans.Inver.Other* Mantere et al.Constitutional Disorders85999999/99 (100%)192034620 Kornelia et al.Hematological Malignancies52160176160/160 (100%)344049235 *Covering complex rearrangements, aneuploidy, isochromosomes, ring chromosomes, and insertions Among the key conclusions presented in both studies, is that OGM has the potential to become a primary analysis for most molecular cytogenetics applications and provides a complement to existing sequencing-based methods for a more comprehensive view of genome variation. The authors describe OGM as a better alternative to traditional cytogenetics assays for both inherited genetic disease and hematological malignancy applications since it consolidate...