Individual genomes only reveal so much, so researchers have begun sequencing whole families. Such projects necessitate the development of new tools to analyse the large amount of data generated, as exemplified by one such project led by Euan Ashley of Stanford University in Palo Alto, California.

All the family members sequenced for the study are relatively healthy, but the analysis reveals their genetic risk factors for dozens of common diseases. For instance, the father, John West, and his daughter — but not his son — share a genetic risk for blood-clotting disorders, although it is not clear whether this contributed to a pulmonary embolism that West suffered in 2003.

The team also used the data to build a new human reference sequence by integrating them with data from the 1000 Genomes Project. West has now founded a company with some of the co-authors that aims to use the project's data-analysis tools to interpret whole-genome sequence data.

PLoS Genet. 7, e1002280 (2011)