Faster, cheaper way to find disease genes in human genome passes in...(g the causative gene can take many years...)

From attempts to determine the genetics of cancer, diabetes, and heart disease, scientists now realize that common variations in the human genome account for only a small fraction of the risk of these common diseases. The new strategy allows researchers to investigate the contributions of rare variants and might be extended to larger population studies to untangle the complex genetics underlying the leading causes of death and disability.

Shendure explained the team's approach: "We decided to focus only on the 1 percent of the human genome which codes for proteins. This portion is called the exome. In other words, we determined the genetic variation in these areas, and ignored the rest. We used new technologies to capture these specific regions in the genomes of 12 people, 4 of whom were affected by the same Mendelian disorder. None of the subjects were relatives. We then decoded these selected parts of the genome through massively parallel DNA sequencing, a technology that allows one to sequence hundreds of millions of DNA fragments in parallel." Intersecting these data found that only a single gene, MYH3, contained novel mutations in the exomes of all four affected individuals.

The UW was one of three institutions, along with Harvard Medical School and the Broad Institute, funded in 2008 for The Exome Project by the National Heart, Lung and Blood Institute of the National Institutes of Health. The project aims at developing technologies to selectively sequence the human exome.

Shendure pointed out that a limitation of sequencing only exomes is that it doesn't reveal the regulatory, structural or other non-coding differences between human genomes.

Despite this limitation, genome-focused sequencing has several advantages: "Our focus on the protein-coding subset of the genome enables us do at least 20 times more samples than could be done with whole genome sequencing with eq
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