AYUDH Teach at Yale: Introduction to Exome Sequencing

AYUDH Connecticut teaches bioinformatics at Yale through our AYUDH Teach initiative!

AYUDH Teach at Yale: Introduction to Exome Sequencing

On December 6, 2016, AYUDH Connecticut hosted a bioinformatics workshop at Yale University as part of AYUDH Teach.  Thirty-three members of the Yale research community came together as part of the Yale Cushing/Whitney Medical Library’s first meeting of the Next Generation Sequencing for Biologists Series. 


Upon arrival, the following quote flashed on display on the screen: “Our greatest, most important duty in this world is to help our fellow humans. – Amma”  The presentation began with some information about AYUDH, AYUDH Teach, and the United Nations 17 Sustainable Development Goals (SDGs) for the 2030 Agenda including SDG#4 on Quality Education.


Attendees then learned about how to analyze whole exome sequencing data, following along with some of the exercises on their laptops.  The talk started at a very basic, conceptual level for those who did not have any prior command line or coding experience.  The workshop outlined the exome sequencing pipeline, going from raw DNA sequence data to annotated variants and introduced the basic file structures, different tools and resources available for each step, and how to get started with command line. 


Following the presentation, there were overwhelmingly positive comments and a letter of appreciation from the Director of the Yale Medical Library.  The workshop helped foster conversations, collaborations, and mentoring relationships in a community of biologists looking to learn and utilize next generation sequencing techniques.