Using Sanger sequencing, mutation screening in genomic intervals defined by linkage analysis or in a large number of candidate genes is often extremely tedious. As a more efficient alternative, the group is involved in developing efficient experimental technique and computational tools for high throughput mutation screening using Solexa sequencing technology.

Chromosome rearrangements can cause genetic diseases by disrupting or inactivating specific genes. Using Solexa sequencing technology, we are developing an efficient method to detect aberrations in high resolution. Characterisation of disease-associated chromosomal rearrangements has already led to identification of new disease causing genes.

MiRNAs are small non-coding RNAs that control the expression of target genes at the posttranscriptional level. Recently, miRNA pathway has been shown to play an important role in the development and maintenance of mature nervous system. We have been involved in systematic mutation screening of miRNA genes in patients with X-linked mental retardation. Subsequent functional analysis of the role of miRNA genes in mental disorders is ongoing.

Finally, Our group provides bioinformatics service for  other groups in the department