The majority of the human genome is transcribed and intensely spliced, producing a massive and diverse population of genes that are collectively termed the transcriptome. The transcriptome is the exceptionally complex expression of the information encoded within the genome.
Our research aims to understand the information expressed within the transcriptome. To understand the language of genes, whether they code for proteins or noncoding RNAs that function intrinsically as RNA molecules. To understand the grammar of splicing, the principles by which gene sequences are rearranged and re-interpreted. To understand the structure and diversity of gene populations that combine to form the transcriptome.
To achieve these research aims, we have developed a technology that captures parts of the transcriptome for targeted next-generation sequencing, providing the deepest view into the transcriptome to date. This enables more sensitive gene discovery, more precise measurement of gene abundance, and the dissection of RNA processing pathways such as splicing.
Errors in the transcriptome cause a range of human diseases. DNA mutations that interfere with splicing induce a number of cancers, such as leukaemias. We are currently applying targeted sequencing to find the splicing errors within cancers, and developing novel therapeutic strategies to correct these grammatical mistakes.