Current Highlight from April 29, 2016
Assembly of Personal Genomes for Precision Medicine
Scientists from FDA's National Center for Toxicological Research and Center for Biologics Evaluation and Research published a review article in Pharmaceutics
that discusses issues surrounding the assembly of personal genomes to support precision medicine. The review article provides an overview of human genome-sequencing technologies, genome-assembly software packages, and IT requirements; and proposes metrics and parameters for quality assessment of the assembled genomes. Finally, the authors discuss the potential benefits of using personal genomes as references in precision medicine applications rather than the current public reference genome derived from multiple individuals.
that discusses issues surrounding the assembly of personal genomes to support precision medicine. The review article provides an overview of human genome-sequencing technologies, genome-assembly software packages, and IT requirements; and proposes metrics and parameters for quality assessment of the assembled genomes. Finally, the authors discuss the potential benefits of using personal genomes as references in precision medicine applications rather than the current public reference genome derived from multiple individuals. For additional information, please contact Wenming Xiao, Staff Fellow, Division of Bioinformatics and Biostatics, FDA/NCTR.
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