These papers detailing the pilot part of the 1000 Genomes project really mark an enormous resource for biomedical research. These are some of the ways it will help:
1. As we carry out our genomewide association studies for Alzheimer’s and other diseases, when we see an association, it will tell us which variants are on the chromosome we have found association to (this is called imputation). This means we really don’t need to do any sequencing...or at least, much less sequencing...to have a list of candidate pathogenic variants.
2. When we find rare variants that predispose to disease, we can go the other way: We can see what haplotype on which they arose, and understand where the mutation may have come from and who else may have the mutation we have found.
3. A major problem in clinical genetics is knowing when we find mutations in genes which have pathogenic mutations (a good example is the PGRN gene in dementia cases); we cannot always know if the new variant we have found is pathogenic, or harmless, or something in between. These data will help to answer that (see