Bioinformatics Seminar
Time:
Venue: Na
17 March 2015
NaStatistical Methods and Software for High-throughput Mutagenesis
Alan RubinWEHI Bioinformatics
The use of high-throughput DNA sequencing has rapidly expanded catalogues of normal and disease-associated variation ; but the functional consequences of most mutations are unknown. In deep mutational scanning ; selection for protein function applied to a library of protein variants is combined with high-throughput DNA sequencing to directly measure the activity of hundreds of thousands of variants of the protein easily and cheaply. This approach helps to bridge the gap between variant identification and interpretation ; allowing researchers to elucidate sequence-function relationships at high resolution. Alan will present a novel method for assigning functional scores and statistical significance to all variants in a deep mutational scanning dataset based on weighted regression. This method is implemented as part of Enrich 2 ; a software package that makes the initial data analysis accessible to experimental biologists while providing an extensible framework for bioinformaticians manipulating these large datasets.;;;;