DNA analysers for direct medical sequencing

The Applied Biosystems TargetSeq Resequencing System is a software system for high-throughput directed or medical sequencing designed for use with Applied Biosystems 3730 and 3730x1 DNA Analysers.

The TargetSeq Resequencing System features a fast-run software module for the sequencing of individual gene exons or other small DNA fragments. TargetSeq is able to produce 200 to 400 base pair sequencing reads in 20 mins or less, increasing the daily production capacity of the 3730 series instruments to greater than 2.8 megabases or 6912 samples (72 runs) per day.

The system is expected to have impact on medical sequencing projects which focus on small regions of the human genome to identify mutations in complex diseases, such as various cancers.

Directed sequencing, also known as medical sequencing, will represent the majority of sequencing projects over the next several years as researchers transition from de novo sequencing to targeted sequencing of coding areas of the human genome.

The system also includes a new version of the KB Basecaller software optimised for heterozygote/mixed base detection and added flexibility for de novo and directed sequencing applications.