New Computational Tool For Rapid Identification Of Disease-Causing Variations In The Human Genome & Guides to Genomics Resources

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From the 26 June Medical News Today article

Scientists from the University of Utah and Omicia, Inc., a privately held company developing tools to interpret personal genome sequences, have announced the publication in Genome Research of a new software tool called VAAST, the Variant Annotation, Analysis and Selection Tool, a probabilistic disease-causing mutation finder for individual human genomes.

The dramatic decline in DNA sequencing costs is making personal genome sequencing a reality. Already, significant progress has been made in applying whole genome sequencing to cancerprognosis and early childhood disease. Examples include the 2010 publications on Miller Syndrome in Nature Genetics and Science, and similar studies aimed at identifying the unknown genetic defects responsible for some early childhood diseases…

…However, a data interpretation bottleneck has limited the utility of personal genome information for medical diagnosis and preventive care. VAAST is a new algorithm to assist in overcoming this bottleneck. VAAST is the product of a collaboration between Mark Yandell, Ph.D., Associate Professor of Human Genetics at the University of Utah School of Medicine, and colleagues, and the Omicia scientific team under the leadership of Martin Reese, Ph.D., the company’s CEO and Chief Scientific Officer.

In the Genome Research paper, Yandell and colleagues show that VAAST provides a highly accurate, statistically robust means to rapidly search personal genomes for genes with disease-causing mutations. The authors demonstrate that as few as three genomes from unrelated children, or those of the parents and their two children, are sufficient to identify disease causing mutations.

“The big challenge in genomic medicine today is how to sift through the millions of variants in a personal genome sequence to identify the disease-relevant variations,” said Dr. Reese. “It’s a classic needle in a haystack problem, and VAAST goes a long way toward solving it. We look forward to integrating VAAST into the Omicia Genome Analysis System currently under development for clinical applications.”

Dr. Yandell added: “VAAST solves many of the practical and theoretical problems that currently plague mutation hunts using personal genome sequences. Our results demonstrate that this tool substantially improves upon existing methods with regard to statistical power, flexibility, and scope of use. Further, VAAST is automated, fast, works across all variant population frequencies and is sequencing platform independent.”

Two General Genomics Resources

• Public Health Genomics (US Centers for Disease Control and Prevention) information includes
• Family Health History with collection tools (as how to create a family health portrait), FAQs, fact sheets, and more
• Genetic Testing with information on the limitations for most genetic tests, FAQs, and more
• Links to Genomics Resources, including Disease and Genetic Information, Educational Materials, Genetic Testing, and Support Groups

 

• 

• Genetics Home Reference – Your  Guide to Understanding Genetic Conditions with information on diseases and conditions, information on specific genes, a handbook presenting basic information about genetics in clear language and links to online resources, and more

 

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