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.
Tibco Spotfire Releases Four Apps in Line with Pharma's Push to Integrate Research and Clinical Trials
While business in the research segment has been flat for Tibco Spotfire over the last year, the company's clinical trials business is up about 300 percent, a company official said.
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