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Biodiscovery Genomic Sequencing Software
1 software items found
by:BioDiscovery, A Bionano Genomics Company based inEl Segundo, CALIFORNIA (USA)
As described in Chaubey et al., Journal of Molecular Diagnostics, vol. 22, No. 6 June 2020, they used 10x WGS and validated that the NxClinical algorithm detected all CNVs and AOH that were found by high-resolution SNP arrays. Figure 2. shows a small exonic deletion detected using 10x WGS with the MSR algorithm. With higher depth NGS, smaller CNVs can be detected and integrated with sequence ...