Largest study of mendelian disease highlights how ogm, alongside other techniques, may enhance success rates in identifying molecular causes of genetic disease

San diego, sept. 14, 2023 (globe newswire) -- bionano genomics, inc. (nasdaq: bngo), today announced the publication of a study detailing the challenges associated with the detection and interpretation of causal variants in mendelian disease, using a cohort of 4,577 families. the study authors conducted a comprehensive analysis of samples from the cohort in which non-sequencing-based challenges were encountered, and then reanalyzed samples using exome sequencing (es), whole-genome sequencing (wgs), chromosomal microarray (cma) and optical genome mapping (ogm), finding that addressing these challenges alone could boost diagnostic yield of causal variants by approximately 71% and underscoring the need for a thorough approach to undiagnosed diseases.
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