Using 1000 Genomes Data

These are three sets of slides which represent introductory information about the 1000 genomes project. The first set contains the basic information about the project and the tools. The second set are 3 exercises using the website and browser to find information. The third set are command line exercises about finding and viewing out BAM and VCF files and using our tools like the Variant Effect Predictor and the Variation Pattern Finder.

The topics covered in these slides are:

  • Brief History of the 1000 Genomes Project, data and analysis [ppt|pdf]
  • The Raw Data and FTP site [ppt|pdf]
  • The Website and Browser [ppt|pdf]
  • The 1000 Genomes Tools [ppt|pdf]

The exercises are separated into two sections:

  • Browser based exercises [doc|pdf]
  • Command line exercises [doc|pdf]

Answers are available for these exercises

You can run this tutorial on the Amazon Web Service Cloud with our prebuilt AMI. For more information please look at Using 1000 genomes data in AWS

There are more details slides about our recent paper, population genetics, functional analysis and structural variants from our ASHG 2012 tutorial page

Please note for in order to be able to do the command line exercises you need to have several pieces of software and source code installed. These are described here

A version of this tutorial has been given twice on the Genome Campus. The precise slides used in those talks can be found on our ftp site. [Tutorial 24th January|Tutorial 16th February].