Dr. Gordana Raca
Director of Cytogenomics
Children's Hospital Los Angeles
Duration: 45 mins
May 23 at 7:30am PDT | 10:30am EDT
May 23 at 10:00am PDT | 1:00pm EDT
Audience: This webinar is geared towards those involved with genomic variation analysis and interpretation in a cytogenetics or molecular genetics lab.
Description: This webinar focuses on how genetic diseases are caused by different genomic alterations, from single nucleotide variants (SNVs) to gains of entire chromosomes. To provide comprehensive evaluation for structural and sequence level changes (SNVs, indels, copy number variants (CNVs), balanced rearrangements and copy-neutral loss-of-heterozygosity (CN-LOH)) diagnostic laboratories use diverse methodologies, often including chromosomal microarrays (CMA) for detection of CNVs and CN-LOH, and next-generation sequencing (NGS) assays for SNVs, indels, CNVs and abnormal gene fusions. This requires use of multiple commercial or custom tools to analyze raw data and to review, prioritize and visualize detected variants resulting in complicated and inefficient workflows and substantial investment in specialized software. Detection of SNVs and CNVs from NGS data often utilizes different analysis pipelines and visualization tools.
NxClinical allows for analysis of both CMA and NGS data generated by different sequencing or array platforms, and supports detection, review and visualization of SNVs, indels, CNVs and CN-LOH. Using representative cases of constitutional Mendelian disorders and pediatric tumors, we illustrate how integrated review of different mutation types in NxClinical not only simplifies laboratory workflows and increases efficiency, but also facilitates accurate detection and interpretation of clinically significant variants.