Capture NanoporeSeq: a novel technique for targeted full-length transcript sequencing and gene expression analysis

The accurate characterisation and quantification of expressed gene isoforms is essential to understanding how genetic variation affects gene expression and ultimately the risk of disease. However, the expressed isoforms identified by standard RNA sequencing methods are often incorrect due to the near ubiquitous presence of alternative gene isoforms in the human transcriptome.

This project aims to address this problem by developing a novel technique (Capture NanoporeSeq) to perform full-length cDNA sequencing of target human genes and unambiguously identify which isoforms are expressed. Capture NanoporeSeq will provide high sensitivity for targeted gene isoforms. Once developed, Capture NanoporeSeq will be validated in post-mortem human brain tissue to identify the expression of gene isoforms from genomic regions linked to neuropsychiatric disorders.

These developments will improve our ability to accurately characterise and quantify gene expression. This can be used in neuropsychiatric disease genetics, helping to illuminate the impact that disease-associated genetic variation has on gene expression.