A combination of optical genome mapping with Bionano and whole genome sequencing short-read data. This pipeline was created to help integrate structural variant calling from these two technologies. These results were published in Budurlean L, Tukaramrao DB, Zhang L, Dovat S, Broach J. Integrating optical genome mapping and whole genome sequencing in somatic structural variant detection. Journal of Personalized Medicine. 2024;14(3):291.
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View Code? Open in Web Editor NEWA combination of optical genome mapping with Bionano and whole genome sequencing short-read data. This pipeline was created to help integrate structural variant calling from these two technologies.