Treffer: 2016 Gibbons Lectures 2. Finding your place in the genome: assembly, annotation, association

A public lecture delivered by Professor Thomas Lumley, Department of Statistics, the University of Auckland. Introduced by Associate Professor Alexei Drummond, Computer Science Department and Bioinformatics Institute, the University of Auckland. ; Finding your place in the genome: assembly, annotation, association. Medicine is undergoing a revolution based on growing knowledge of the structure of human DNA, particularly the DNA of individuals. This lecture discusses the gathering of DNA information, three billion letters per individual. It is a task both massive and difficult and to an extent that would have been astonishing a century ago, DNA copying and transcription turns out to be a digital process. The copying mechanism allows tiny amounts of DNA to be amplified; the base-pairing of the double helix lets us read sequences. With three billion letters of genome, much of which is poorly understood, computers need to do nearly all the work. Three areas of IT involvement: 1. DNA sequencing is a massively parallel operation: the current standard technology produces results in snippets as short as 36 letters. Assembly is the process of combining billions of short reads into a single genome: it would be computationally difficult if there were no errors; there are errors. 2. Annotation, looking up what is known or can be guessed about a stretch of genome, is a traditional database task, complicated by the lack of centralised control and the variable quality of information. 3. Association studies relate differences in the DNA sequence to differences in biology and health. These require DNA and medical data on tens or hundreds of thousands of people, usually divided across multiple research groups and countries. They require careful design of the statistical computing in order to use data and analyst time efficiently. ; 2016 Gibbons Lectures. Medical applications of information technology. The human body is of mind-boggling complexity in the immense number and detail of its components, the interconnections between ...