Efficient Identification of Protein-Coding Variants in a Model Organism through Exome Sequencing

Drug Discovery and Development, Life Sciences, Pharmaceutical,
  • Wednesday, September 17, 2014

The identification of protein-coding variants underlying phenotypic traits in model organisms can be accelerated by exome sequencing. Built on Roche NimbleGen’s proprietary probe design and manufacturing technologies, the custom SeqCap EZ Developer system has been a proven tool for such research.

Mr. Watson will discuss how he developed probe sets to capture domestic pig (Sus scrofa) exonic sequences based upon the current Ensembl pig gene annotation supplemented with mapped expressed sequence tags (ESTs). He will present how he achieved coverage statistics similar to those seen with commercially available human and mouse exome kits. With over 236,000 SNPs and over 28,000 indels revealed, this exome capture provides a tool to identify coding region variation associated with production traits, and to improve genomic assemblies in the vicinity of protein-coding genes in the pig.

This webinar will benefit agriculture or model organism researchers, as well as scientists working on any genomes less well-annotated than human or mouse.


Mick Watson, Head of Bioinformatics, Edinburgh Genomics, University of Edinburgh

Mick Watson is an established bioinformatician, with 15 years’ experience in industry and academia. He was involved in the implementation and management of pipelines for functional genomics at GlaxoWellcome, SNP discovery at Incyte Genomics and Target Discovery at Paradigm Therapeutics, before joining the Institute for Animal Health as Head of Bioinformatics in 2002. He joined The Roslin Institute in 2010 and was Director of ARK-Genomics between 2010 and 2013.

Mr. Watson recently became Head of Bioinformatics at Edinburgh Genomic. His group’s research focuses on the use of computational and mathematical techniques to understand genome function with an emphasis on systems of relevance to animal health and food security. He has authored and co-authored over 40 peer reviewed publications, including both primary bioinformatics research papers and collaborative research in a variety of technical and scientific journals.

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Who Should Attend?

Principle investigators, laboratory scientists, genome center directors, bioinformatics scientists, agricultural genetic researchers, model organism scientists.

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Roche NimbleGen is an innovator in the life sciences market focused on research activities and manufacturing target enrichment probe pools for DNA sequencing. Capitalizing on the efficiencies inherent with parallel enrichment, researchers can now design economical, high throughput, and time-saving next-generation sequencing experiments. Next-generation sequencing combined with Sequence Capture probe pools offers researchers a clearer understanding of genomic structure and function in order to understand the impact of genes on biological processes. We are part of the innovations in sequencing solutions for life science research, now and in the future.

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