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Attributions

Attributions for images where no URL is provided on the slide. All photographs courtesy of Flickr Creative Commons (only licenses which allow modifications and derivative use); images are screenshots from HBC work unless stated otherwise.

Title Slide:

Genomics medicine:

Exome sequencing:

  • Exome view in IGV, test data screenshot

Scope:

Introduction to Sequencing Technologies:

Illumina slides:

Sequencing by synthesis:

IonTorrent:

PacBio:

Introduction to Resequencing:

In an ideal world:

Unix and the command line:

Quality control and grooming

Illumina error sources:

Alignment:

What to align against:

Marking duplicates:

Identifying variation:

Finding the right variants:

Experimental design:

First step:

A quick orientation: