Presented By Dr. Soheil Shams
Microarray technology has become a well-established and mature technology for detection of copy number variations (CNVs) as well as detection of Absence of Heterozygosity (AOH). Next-Generation Sequencing (NGS) technology has proven to be valuable in detecting small Sequence Variants, such as SNVs, MNV, InDels, etc.
It is commonly recognized that to get the maximum diagnostic yield, a combination test where all structural variants are considered regardless of size is the optimum solution. This has led to many labs performing microarray as well as NGS testing on the same sample to obtain reliable CNV, AOH, and Seq Var events. However, in almost all cases, the data from these technologies resides in different databases and separate software systems are used to review and interpret the results. This can reduce the overall utility of the combined tests by missing out on potential synergies between the two modalities (e.g. a copy number deletion of a recessive gene that also has a LOF mutation). In this presentation, we will demonstrate
- NxClinical 3.0, a truly integrated system for analysis, visualization, and interpretation of data generated by both microarray as well as NGS platforms
- NxClinical can provide a seamless and integrated case review environment; a number of example cases from both cancer as well as constitutional abnormalities will be used