With great advances in technology come pundits crying out that this will be the year that everything changes.  It seems that every year from 1982 to 1992 was the "Year of the LAN."  Yet, in 1993 the Internet would be the overnight success story in networking.

Thus, with great humility and modest expectations, I bring to you my top three predictions for genomics in 2012.  Not a single one of these will make this the actual Year of the Genome.  But you can be sure that we are well on our way to the actual overnight success story in genomics.

#1) Cancer Research Accelerates

Variant calling for the discovery of somatic mutations that drive cancer will become mainstream this year.  Evidence?  The NHGRI announced December 6, 2011, its investment in Clinical Sequencing Exploratory Research.  The big genome centers are putting time and energy into new algorithms and pipelines for cancer research (TCGA Symposium video).  And importantly, pharma and biotech are driving to find and test tailored therapies (Cancer Genome Sequencing).  For real progress in cancer therapy and cure, investigators will need the ability to identify driver mutations definitively.  They will need support from a variant caller that significantly reduces error rates when detecting genomic variants by short read sequencing (Nature Biotech publication).  Watch this space closely.

#2) NGS Productivity Increases

I hear you.  It's not exactly a bold prediction.  Vendors have not throttled their efforts to reduce the cost per base pair of sequencing.  There still exists real demand for sequencing.  So, why are the stock prices for public companies like Illumina, Life Technologies, PacBio and Complete Genomics doing so poorly?   We are in transition.  Large scale sequencing investment that required the productivity of an Illumina HiSeq is giving way to new sequencing instrument choices.  More industry activity will focus on the requirements of therapeutic discovery and development.  Look for NGS productivity to benefit clinical applications, with more targeted sequencing, and investigations that require a broad mix of data types.

#3) Independent Investigators Return

Large scale, collaborative, big science research continues to build a strong foundation for genomic science.  But the massive volumes of data generated by genomic research can create research paralysis and obscure potential discovery.  Individuals do best to investigate what they know, where they can clearly identify the signal from the noise.  They need tools for integrative data analysis, like Galaxy, that can help to bring relevant data from multiple sources into one view.   RTG Investigator can operate nicely in this environment through a Galaxy wrapper (available by request).

With these predictions, I wish you a productive year in genomics.