Led by biomedical engineer Justin Zook of the National Institute of Standards and Technology, a team of scientists from Harvard University and the Virginia Bioinformatics Institute of Virginia Tech has presented new methods to integrate data from different sequencing platforms, thus producing a reliable set of genotypes to benchmark human genome sequencing.
"Understanding the human genome is an immensely complex task and we need great methods to guide this research," Zook says. "By establishing reference materials and gold standard data sets, scientists are one step closer to bringing genome sequencing into clinical practice."
The methods put forth by the researchers make it increasingly possible to use an individual's genetic profile to guide medical decisions to prevent, diagnose, and treat diseases a priority of the National Institutes of Health. Their work was published this week in Nature Biotechnology.
"We minimize biases toward any sequencing platform or data set by comparing and integrating 11 whole human genome and three exome data sets from five sequencing platforms," says Zook.
The National Institute of Standards and Technology organized the Genome in a Bottle Consortium to make well-characterized, whole-genome reference materials available to research, commercial, and clinical laboratories.
Though several methods to integrate genomic information have been put forth by the 1000 Genomes Project an international research effort to establish a detailed catalogue of human genetic variation the idea to arbitrate between data sets from different sequencing methods on the same genome had never been done.
The team addressed the challenge
|Contact: Tiffany Trent|