Dinner Short Course

NGS Assembly and Alignment 

Instructor: Gabe Rudy, Vice President, Product Development, Golden Helix


Sunday, February 9, 2014 | 2:30 - 5:30 pm | Moscone North Convention Center | San Fransisco, CA 

The utility of Next Generation Sequencing data has proven itself for research and clinical use. Fundamental to any analysis based on DNA-Seq variant call data is an appreciation of the complexity and shortcomings of the upstream analysis: from the machine generated base calls, through alignment, recalibration, local InDel re-alignment and variant calling. 

In this course, I provide an overview of the bioinformatics landscape of secondary analysis without assuming a bioinformatics background from the attendee. In reviewing the strengths and weakness of tools and pipelines, we will cover common sources of false-positives, and through interactive examples, learn to spot them in a genome browser. Finally, we will cover what to expect and not expect as deliverables from a sequence-as-a-service provider or core lab.

About the Instructor:

Gabe RudyGabe Rudy, Vice President, Product Development, Golden Helix

Gabe is a 10-year veteran at Golden Helix and spends his days collaborating with a diverse set of scientists and building solutions to enable their research. An alumnus of Montana State, he earned his Masters in Computer Science from the University of Utah before setting his sights on the fast-changing field of genomics and bioinformatics. Gabe has been involved in developing various algorithms from copy number segmentation to runs of homozygosity and rare variant association testing. Gabe blogs about the genomics field from the perspective of someone building solutions and curating genomic annotations and public databases. His series "A Hitchhiker’s Guide to Next Generation Sequencing" has become quite popular as a starter guide for those entering the field.

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