Webinar Technology

The Importance of Bioinformatics in NGS: Breaking the Bottleneck in Data Interpretation

This webinar is brought to you by the Science/AAAS Custom Publishing Office

The Importance of Bioinformatics in NGS:  Breaking the Bottleneck in Data Interpretation

Recorded 14 May 2014



Unprecedented advances have been made in the speed and throughput of next generation sequencing (NGS) platforms over the last decade. This progress has imposed increasingly high demands on the bioinformatics tools necessary for analysis of the data generated, which has grown exponentially. Although hundreds of thousands of samples have been sequenced, our ability to find, associate, and implicate genetic variants and candidate disease genes far outstrips our ability to understand them. Many researchers are comfortable with NGS technology, but encounter difficulties with the bioinformatics portion of their workflow, rendering NGS a less attractive option as their primary sequencing platform. However, once clear bioinformatics procedures are established and optimized this bottleneck can be removed, resulting in smooth and routine data interpretation processes and expedited research discoveries. During this webinar, our expert speakers will discuss their bioinformatics strategies and applications in range of fields of clinical research.

During the webinar, viewers will:

  • Be introduced to the bioinformatics workflow and the importance of accurate NGS data analysis and interpretation
  • Learn how bioinformatics concepts are applied to detect and characterize disease-related mutations
  • Hear about the use of bioinformatics workflows in a translational setting for tumor mutation detection
  • Have their questions answered live by our expert panel!

For products or technologies related to this webinar, go to:  www.lifetechnologies.com/ionreporter

Speaker bios

Vincent Funari, Ph.D.

Cedars-Sinai Medical Center
Los Angeles, CA

Dr. Funari’s scientific career spans two decades developing or encompassing new genomic approaches to unfold new mysteries of human genetic diseases. During his undergraduate training at the University of California, Los Angeles, he was drawn to clinical research, leading to a Ph.D. at Boston University where he combined clinical research and computers to establish new algorithms and approaches for studying disease pathways by compiling gene expression profiles using Expressed Sequence Tags. Interested in gene expression profiles, Dr. Funari did a short postdoc with the microarray group led by Pat Brown and David Botstein at Stanford University. From there, he moved to the Medical Genetics Institute at Cedars-Sinai Medical Center, trying to understand the molecular basis for human skeletal diseases. It was here that Dr. Funari started his own genomics group which became the genomics core at Cedars-Sinai. Currently, his group offers standard genomic services to investigators worldwide, including transcriptomics, whole exome sequencing, and epigenomics. Dr. Funari’s research interests include developing new approaches for obtaining mycobiome profiles in human disease and the translation of next generation sequencing applications into the clinic and personalized medicine.

Sandra J. Canosa, M.S.

Yale University
New Haven, CT

Mrs. Canosa’s scientific career encompasses more than two decades of biomedical research at Yale University and the Howard Hughes Medical Institute. She did her undergraduate studies in biology at the University of California, Santa Cruz before completing her Master’s in applied genomics at the University of Connecticut. As a research associate in the pathology labs of Yale School of Medicine, Mrs. Canosa has worked extensively with microarray expression profiling, genotyping, and DNA sequencing. In 2011, she joined the institution’s molecular diagnostics laboratory where she has been developing translational next generation sequencing assays and bioinformatics workflows for the Molecular Tumor Profiling Lab of the Yale Cancer Center.

Sean Sanders, Ph.D.

Washington, DC

Dr. Sanders did his undergraduate training at the University of Cape Town, South Africa, and his Ph.D. at the University of Cambridge, UK, supported by the Wellcome Trust. Following postdoctoral training at the National Institutes of Health and Georgetown University, Dr. Sanders joined TranXenoGen, a startup biotechnology company in Massachusetts working on avian transgenics. Pursuing his parallel passion for writing and editing, Dr. Sanders joined BioTechniques as an editor, before joining Science/AAAS in 2006. Currently Dr. Sanders is the Senior Editor for Custom Publishing for the journal Science and Program Director for Outreach.

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