Michael E. Zwick is a geneticist at Emory University School of Medicine in Atlanta, and his recently published study in October's Genomics journal on Identifying Autism Susceptibility Genes explores a new PCR technology for rapid, targeted, and highly accurate sequencing and identification of novel genetic variants affecting X chromosome genes. Autism is four times more common in men, who possess only one copy of the X chromosome, and Zwick's research explores this possible correlation.
Dr. Zwick and his colleagues in this study have been developing software to aid in analyzing the dense resequencing datasets they produce. They have been working in conjunction with RainDance Technologies, using the Massachusetts-based company's microdroplet-based machine technology to "support the routine sequencing of the exons of the human X chromosome in a uniform, accurate and comprehensive way.”
(Disposable chip for PCR droplet analysis, courtesy of RainDance Technologies)
Rather than sequencing the entire X chromosome from beginning to end, the Emory geneticists have instead targeted the more than 800 exons-- the part of the genes that are encoded in the final RNA transcript. They found that their technique could read 97% of targeted sequences at high depth with an accuracy of 99.5%, with 3-7 times fewer sequence reads needed to achieve high levels of accuracy.
The great research at Emory University is enabled in part by outstanding facilities such as the Whitehead Biomedial Research Building ( where Dr. Zwick and his team carry out their research). It is the largest of its kind in the southeastern United States. The 325,000 sf, $83 million building consists of 8 floors of laboratory, lab support and offices for cell biology, human genetics and physiology, and houses the Neurodegenerative Disease Center and Center for Medical Genomics.
Meet with researchers from this building and others at Emory University at Biotechnology Calendar, Inc.'s 13th Annual Atlanta BioResearch Product Faire event on the Emory campus this February 16, 2012. These expositions are an excellent opportunity to meet and exchange ideas with life science and medical science researchers and to learn about up-to-date laboratory products, scientific supplies and analytical equipment.