Benchmarking Study Shows Streamlined Structural Variant Detection and High Concordance for OGM Compared to Chromosomal Microarray Analysis, the Global Standard in Genetic Disease Analysis
The study evaluated the potential of OGM to measure all classes of variant types covered by CMA, including gains, losses, aneuploidy, triploidy and absence of heterozygosity, in indications including unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). The study also compared the performance of OGM to methods such as karyotyping (KT) and fluorescence in situ hybridization (FISH), which are used in conjunction with CMA to resolve duplications or when CMA results suggest the presence of a translocation.
- OGM was 100% concordant with CMA for the detection of pathogenic variants (46 out of 46 pathogenic variants detected in 36 samples)
- OGM was 98% concordant with CMA for the detection of clinically significant structural variants (60 out of 61 clinically significant variants detected by OGM were in agreement with CMA results; 1 variant was called a duplication by CMA and called an insertion by OGM)
- In 22% of samples (12 out of 55 samples), the higher resolution of OGM allowed for better refinement of the structure of the genome compared with CMA alone
- In 3 cases where CMA results implied unbalanced derivative chromosomes, OGM was able to detect the translocation (fusion)
“According to guidelines, CMA is the global standard for molecular analysis of constitutional genetic disorders. Additionally, KT and FISH are needed as a reflex when researchers must confirm a translocation or locate a duplication.
CMA remains the current global standard because short-read whole genome sequencing (WGS) remains too expensive to run at sufficient depth to offer comparable resolution to what CMA provides, and low-pass WGS is typically only cost-effective with high sample volumes. The gap between long-read sequencing and CMA is even greater than the gap between short-read WGS and CMA.
It is important for the research community to have a benchmarking study comparing OGM to CMA, especially for genetic disorders, since OGM has a comparatively cost-effective workflow with simple interpretation and analysis. We are pleased to see the study findings confirm OGM’s full concordance with CMA and its potential to eliminate the need for reflex testing with FISH and KT, based on its higher resolution,” commented
The publication can be viewed here.
Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company’s mission is to transform the way the world sees the genome through OGM solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also provides diagnostic testing for patients with clinical presentations consistent with autism spectrum disorder and other neurodevelopmental disabilities. The Company also offers an industry-leading, platform-agnostic software solution, which integrates next-generation sequencing and microarray data designed to provide analysis, visualization, interpretation and reporting of copy number variants, single-nucleotide variants and absence of heterozygosity across the genome in one consolidated view. The Company additionally offers nucleic acid extraction and purification solutions using proprietary isotachophoresis technology. For more information, visit www.bionano.com, www.bionanolaboratories.com or www.purigenbio.com.
Unless specifically noted otherwise, Bionano’s OGM products are for research use only and not for use in diagnostic procedures.
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Source: Bionano Genomics