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Large scale sequencing projects

Posted on 05, Nov, 2012 by in

The 1000G project just published it’s main manuscript, and MassGenomics provides an excellent summary:

The 1,000 Genomes project has provided a sort of “null expectation” for the number of rare, low-frequency, and common variants of different functional consequences found in randomly-chosen [healthy] individuals from various populations. […] It also tells you that if you sequence an individual’s whole genomes and don’t find about 3 million SNPs, something is probably wrong.

And Luke Jostin’s publication in Nature reports on a record number of genetic associations for Inflammatory Bowel Disease, along with the struggle to turn these associations into actionable predictions:

We could imagine genotyping healthy people and use our new IBD variants to find a “high risk” group that we can monitor more closely. How well would this work? Given the variants reported in the paper, the answer is “not very well”. Suppose we take people in the top 0.05% of IBD risk. Even in this high risk group only 1 in 10 people will get IBD. Even worse, 99% of real IBD patients WON’T be in this group, and so would be missed by the test!

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