The pilot program tested the viability of three strategies. BCM designed and coordinated the strategy that involved targeting the sequencing to gene coding regions. This project provided the most complete data for the exons (or coding regions) of 1,000 genes, as it was designed to deeply sample the DNA in each of nearly 700 people. An estimated 2 percent of the human genome is composed of protein-coding genes.
"We also developed new methods to target variation in genes, and showed that this approach gave maximum information about this important class of human variation", said Dr. Fuli Yu, an assistant professor in the BCM Human Genome Sequencing Center and coordinator of the study.
The project's fast pace was made possible only by next-generation sequencing technology, which can produce thousands or million of sequences rapidly. The techniques involved allow researchers to evaluate all the rare variants found in areas of the genome known to be associated with human disease.
Another of the pilot projects involved using a variety of sequencing technologies to sequence the genomes of six people (two nuclear families including parents and one daughter) at high coverage (meaning in exacting detail). Each sample was sequenced from 20 to 60 times, uncovering a more complete picture of DNA variation in these families. Using different technologies scientists also obtained a better understanding of the strengths of each sequencing platform.
The other pilot project sequenced the genomes of 179 people in less detail subjecting each sample to an average of approximately four sequencing passes. Researchers then combined the data from different people to di
|Contact: Glenna Picton|
Baylor College of Medicine