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.
Applying Chemistry to Pecans
November 25, 2009
The title of Derek Lowe's blog post is "Applied Organic Synthesis: Chocolate Pecan Pie" and to us that sounded like a great way to put chemistry to use. Just follow his protocol to get some tasty pecan pie. He's helpfully converted the measurements into the metric system for non-US readers, but you can also pretend you're still at the bench. "Note that this product has an extremely high energy density — it's not shock-sensitive or anything, but make the slices fairly small," Lowe adds.
