CHOP

Vivian Cheung

While the findings could have implications for other common diseases, in particular neurological disorders such as autism or schizophrenia, several scientists say it is unlikely that rare mutations play an equally large role in common diseases with late onset, where natural selection has had a different effect.

Recently, the center started to bring in high-throughput sequencing, purchasing 15 Applied Biosystems SOLiD sequencers from Life Technologies — a mix of SOLiD 4 and 4hq — which will all be installed by the end of the year.

While they acknowledge that genome-wide association studies have been effective in finding common variants associated with human disease, the researchers caution in a new PLoS Biology paper that rare, undetected variants may underlie those associations.

Unlike other CNV databases, the CHOP resource contains only data from healthy individuals who were screened with a single microarray platform. Because of this, researchers can use CHOP's data as controls in their search for pathogenic variants, its developers said.

With the ultimate goal of genotyping 100,000 individuals and following them over time, the Center for Applied Genomics at the Children's Hospital of Philadelphia hopes to use its database not only to better inform its own research, but to make eventually all its data available to the public.