Description:

Abstract:

Next generation sequencing (NGS) technologies have revolutionized genomics research and clinical diagnostics, by allowing the replacement of traditional tests with comprehensive analyses. The application of NGS has expanded across all disease types, and is not restricted to diagnosis or research. This presentation provides an introduction to NGS technologies, and describes the types of assays being used in the clinic. NGS consists of parallel sequencing of millions of small fragments of DNA molecules, and can be used to profile the entire genome, the entire exome or a smaller number of regions of interest. The latter is used most widely in molecular pathology for clinical diagnostics. This era of NGS has also led to the evolution of the field of bioinformatics. Although indisputable that bioinformatics is vital to NGS testing, it represents a significant barrier in test setup and development. This presentation also introduces the audience to the common bioinformatics challenges when designing integrative computational pipelines for NGS data analyses.

Speaker Info:

Sabah Kadri, PhD is the Director of Bioinformatics and Assistant Professor of Pathology at Lurie Children’s Hospital of Chicago, where she leads efforts in bioinformatics for precision medicine in pediatrics, such as setting up clinical genomics tools and pipelines in the cloud. She was previously the Director of Bioinformatics at the Genomic and Molecular pathology division at the University of Chicago, where she led the design, implementation and support of clinical testing for oncology including development of novel tools and pipelines for cutting-edge next generation sequencing (NGS) applications, such as UCM-OncoPlus, a comprehensive diagnostic 1,213 gene panel that can perform variant calling, copy number, gene-fusion, and MSI detection. With a background in computer engineering, Dr. Kadri earned a PhD in Computational Biology at Carnegie Mellon University (Pittsburgh, PA) using an interdisciplinary approach to study small noncoding RNAs in echinoderm development. In 2012, she joined the Lander Lab at the Broad Institute, where she continued working on noncoding RNA populations such as large non-coding RNAs (lincRNAs) and end-RNASeq technologies. Dr. Kadri has significant expertise in NGS technologies and her research work has been 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.