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.
New Label Warns Against Plavix with CYP2C19 Inhibitors, Raises Questions about Role of Mutations
November 18, 2009
Although this update is only for Plavix, the FDA is mulling whether to update the labeling for CYP2C19-inhibiting drugs, and is looking at whether drug response is compromised in all patients or only those with certain CYP2C19 mutations.
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