Abstract: Advances in next-generation sequencing (NGS)-based genomic testing has revolutionized the field of clinical diagnostics. With the identification of an increasing number of genetic biomarkers in somatic oncology as well as germline genetic disorders, genomic tests provide strong diagnostic utility for patient care. The range of genomic anomalies that are diagnostic of various diseases can vary from a single-point mutation to aneuploidy. NGS assays have the potential to detect variants of most sizes in a single assay.

This talk will focus on clinical genetic testing efforts at Lurie Children’s Hospital, highlighting pediatric test validations and computational advances. The potential for cutting-edge computational biology methodologies to ease clinical bottlenecks and improve test performance will be described. The expansion of precision medicine has led to significant changes in bringing genetic testing in-house, as the next wave of clinical testing using whole genome sequencing is being planned. 

Bio: Sabah Kadri is the director of bioinformatics and an assistant professor of pathology at Lurie Children’s Hospital, where she leads efforts in bioinformatics for precision medicine in pediatrics, including setting up clinical genomics tools and pipelines in the cloud. Kadri earned a Ph.D. in computational biology at Carnegie Mellon University. She has significant expertise in NGS technologies, and her research work has focused on using the power of NGS methods innovatively in the field of computational genomics. In addition to clinical NGS testing, she has worked with various types of RNASeq data, including total, small, and end RNAseq to study gene expression, alternative splicing, and annotation.