Personal genome: data analysis challenge

Five themes emerged from the material presented at the 3rd annual personal genomes meeting at Cold Spring Harbor Laboratory held September 10-12, 2010.

First was the trend of family sequencing becoming more of a norm; looking at genetic disease as it is represented in trios, quartets or other family groups.

Second was the trend of increasingly common multi-level analysis, investigating traditional genotype data together with structural variation, expression data, pathways, and cell lines.

Third was the trend of greater breadth and sophistication in cancer genome analysis; the fledgling field of a few years ago now including dozens of sequenced cancer tumor genomes, the first cancer methylome, and cancer transcriptome analysis.

Fourth was the trend of the oft-heard challenge of scaling personal genome interpretation, making it automated, affordable, and actionable.

The fifth theme was the continued improvement in genome sequencing technology through new approaches such as quantum dot nanocrystal sequencing and strobe sequencing.