Family-Based Whole-Genome Sequencing Reveals Candidates for Mendelian Disease
Roach, Glusman et al., Science
Researchers at the Institute for Systems Biology and Complete Genomics have identified candidate disease-causing genes for Miller syndrome and ciliary dyskinesia, both Mendelian disorders. They sequenced the genomes of a family of four, allowing them to determine recombination sites with precision (at 99.999 percent accuracy) and identify rare single-nucleotide polymorphisms. "Our results demonstrate the unique value of complete genome sequencing in families," the authors write.
Dassault-led European BioIntelligence Project to Modify Manufacturing IT Strategy for Life Sciences R&D
BioIntelligence, coordinated by French industrial firm Dassault Systèmes, will bring together pharma firms, software companies, and academic and government research labs to adapt product lifecycle management, or PLM, tools for use in the life sciences.
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