This project was used to define a service model for
high throughput, indirect, mutation screening, a strategy complementary
to the high throughput sequencing strategy developed by NGRL (Manchester).
Using this strategy, only those fragments found to harbour sequence
variations are sequenced for the purpose of characterisation. The
project encompassed procedures from DNA extraction, sample batching,
primary and secondary screens, data analysis and integrated system
control via a LIMS.
project focused on screening for the BRCA1 and BRCA2 genes which
require multiple tests per patient and presented the most immediate
and pressing demand for high throughput analysis within the UKGTN
at the time of inception. Other targets that have been setup using
the system include FBN1 (for Marfan syandrome) and NF1 (for neurofibromatosis).