Largest Study of Mendelian Disease Highlights how OGM, alongside other Techniques, May Enhance Success Rates in Identifying Molecular Causes of Genetic Disease
The study authors reanalyzed and reinterpreted 314 samples with negative clinical exome or genome sequencing using a combination of traditional and novel techniques and were able to identify the likely causal variant in 54.5% of samples. OGM was used to analyze samples that remained negative after ES and was particularly relevant in the detection of large variants that were below the limit of detection of CMA.
OGM’s utility was illustrated in a pedigree structure case where researchers reviewed challenges associated with imprinting disorders appearing to be autosomal recessive phenotypes. OGM was used to analyze three pediatric cases of split hand/foot malformation syndrome after karyotyping, ES and RNA sequencing all failed to identify a causal variant. OGM revealed a tandem duplication impacting multiple genes in all three cases, indicating paternal gonadal mosaicism. In addition to this finding, the authors reported additional instances where OGM was used to resolve cases involving structural variants coming from multiple classes that were highly complex.
“This case study, published in Nature, is the largest study of its kind on Mendelian disorders and it highlights the fact that definitive molecular diagnosis of disease is heavily encumbered by a number of complexities related to the actual data generation itself. The authors demonstrate that the combination of multiple techniques may reveal additional information that can help improve the success rate of molecular diagnosis in Mendelian disease. We believe they also underscore OGM’s ability to resolve highly complex cases involving structural variations and show that OGM may play a significant role in covering the gap in variant detection left by other methods. The findings of this combined approach involving multiple orthogonal methods give researchers a rich data set that may result in increased number of diagnoses, which can inform treatment decisions and reproductive choices,” commented
The publication can be viewed here: https://www.nature.com/articles/s41467-023-40909-3#Sec1.
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