Leukemia Genome Project Highlights Second-Gen Sequencing Software Needs

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The first effort to sequence a complete cancer genome has underscored the power of second-generation sequencing while further establishing the lack of a “killer software app” in the field.

In the study, published this week in Nature, a team of 48 scientists at the Genome Center of Washington University and elsewhere sequenced a female patient’s acute myeloid leukemia genome and compared it to the genome of her biopsied skin as well as reference genomes to uncover 10 cancer-associated mutations — eight of which were previously unknown.
The team used two high-throughput sequencing platforms — the Illumina Genome Analyzer and the Roche/454 FLX platform — and software tools such as Maq, Cross_Match, BLAT, and Decision Tree analysis. The team also did its own scripting and algorithm development in the course of the project, Rick Wilson, director of the Genome Sequencing Center at Washington University School of Medicine, said.

The AML sequencing team applied several established software tools and algorithms as well as those developed specifically for the project, underscoring the fact that second-generation sequencing projects are not taking place in a one-pipeline-fits-all world.


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