Beyond the sequence

Dan MacArthur's post, Can't find your disease gene? Just sequence them all..., is worth a read. He concludes:

But sequencing won't be enough: we need much better methods for sifting out the truly function-altering genetic variants from the biological noise. This is already difficult enough for protein-coding regions (as this study demonstrates); we currently have virtually no way of picking out disease-causing variants in the remaining 98% of the genome. There's a clear need for developing highly accurate and comprehensive maps of the functional importance of each and every base in the human genome, using all of the tools at our disposal - something that will keep us geneticists busy long after we've run out of genomes to sequence.

Tags

More like this

A paper just published online in Nature Genetics describes a brute force approach to finding the genes underlying serious diseases in cases where traditional methods fall flat. While somewhat successful, the study also illustrates the paradoxical challenge of working with large-scale sequencing…
Jones et al. (2009). Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene. Science DOI: 10.1126/science.1171202 A paper published online today in Science illustrates both the potential and the challenges of using large-scale DNA sequencing to identify rare genetic variants…
Personal genomics is a rapidly evolving game, with a clear end goal in sight: offering consumers an accurate, affordable and complete genome sequence, and providing them with tools to dig out the useful nuggets of information contained therein. That goal remains out of reach, and while DNA…
Lupski, J.R., et al. (2010). Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. New England Journal of Medicine advance online 10.1056/nejmoa0908094 Roach, J.C., & et al. (2010). Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science : 10…