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Biodiscovery Environmental Software
5 software items found
by:BioDiscovery, A Bionano Genomics Company based inEl Segundo, CALIFORNIA (USA)
The probe track view in NxClinical shows greater detail related to the supporting probes involved in this heteroUPD15 example. Enlarge the image to the right to reveal the heteroUPD15 visualized on both the top chromosome view (represented by the pink horizontal line) and the BAF plot for parental informative SNPs ...
by:BioDiscovery, A Bionano Genomics Company based inEl Segundo, CALIFORNIA (USA)
Within the karyogram view, vertical bars are drawn within the AOH affected chromosome(s) to indicate parent-of-origin (pink=maternal; blue=paternal), and the same color indicators are displayed in the zygosity track. The image to the left displays a maternal inheritance represented by the pink probes on the BAF ...
by:BioDiscovery, A Bionano Genomics Company based inEl Segundo, CALIFORNIA (USA)
High-quality detection of CNV from NGS data has been a challenge for many years. BioDiscovery has perfected algorithms for the detection of CNV and AOH from almost all NGS ...
by:BioDiscovery, A Bionano Genomics Company based inEl Segundo, CALIFORNIA (USA)
Getting CNV calls from Whole Exome Sequencing has been one of the most challenging efforts in the community. There have been numerous algorithms proposed but they suffer either from poor sensitivity or too many false-positive calls. The MSR algorithm has been able to offer the best balance of these competing measures, detecting small true-positives without generating many false-positives. The ...
by:BioDiscovery, A Bionano Genomics Company based inEl Segundo, CALIFORNIA (USA)
The MSR algorithm can also be applied to detect CNVs from shallow sequencing, including very low-level mosaic events seen in NIPS or ctDNA samples. The image below shows a sample with trisomy 21 detected using 1x WGS. CNVs are an important contributor to disease and are required for accurate diagnosis. For clinical sequencing to be fully accepted as a replacement for microarrays and other ...