Leiden clinical genetics laboratory is an early adopter of updated package, and finds it is helping to cure bottlenecks in the sequencing process
The department of clinical genetics in the Centre for Human and Clinical Genetics at Leiden University Medical Centre in Holland is one of the first laboratories in Europe to take advantage of version 2 of Applied Biosystems's SeqScape software for its high throughput mutation scanning.
Sander Kneppers, laboratory manager in the clinical molecular genetics laboratory, explained: "Here in Leiden, we are looking at several diseases linked to between 80 and 90 different genes.
There have recently been so many advances in sequencing technology that this is now our method of choice for mutation detection.
This is, however, a fast growing area and the workload is continually increasing for all genetic laboratories.
Last year, we had a 25% growth in sequence analysis and we expect about the same level in the coming year. We have the instrumentation to cope with this increase but were aware of a bottleneck looming with the data analysis." "SeqScape software is much better than our previous analysis software and there are even more improvements in the new version 2.
The algorithms are improved which results in better alignments and better detection of heterozygous base changes.
We can predefine all the base changes that might be in the samples and they are presented in a very easily visible way if detected by the software.
Before we started using SeqScape Software, we invested time predefining the reference data groups for each gene using imported GenBank reference sequences.
It has saved so much time and, when analysing the sequences, technicians can now focus on the reported base changes and medium to low quality sequence data instead of screening complete sequence traces." Sander concluded: "We are now looking forward to evaluating the new Applied Biosystems 3730 DNA analyser which is fully integrated with SeqScape Software and will help us to automate even further."
