Novel methodology for predicting the functional impact of mutational variation in the human genome.

新一代测序技术的快速发展导致已确定的基因突变大幅增加，其中许多可能与疾病有关。博士课程的重点是构建基于算法的方法来预测遗传变异的功能后果，这是一个我们已经在某些情况下取得了一些最先进结果的问题。特定的主题将是与数据集成、罕见变体组合和概率推理相关的新方法。我们希望使用英国基因组学（100,000个基因组）项目数据开发的方法。

Rapid developments in next-generation sequencing technologies has lead to a substantialincrease in identified genetic mutations, many of which may be implicated in disease. Thefocus of the PhD programme is to construct algorithmically-based methods for predicting thefunctional consequence of genetic variants, a problem where we have already achievedsome state-of-the-art results in certain contexts. Particular themes will be novelmethodology associated with data integration, rare variant combinations and probabilisticinference. We expect to use the methods developed with data from theGenomics England (100,000 genomes) project.