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.
Are You Up With All the Big Papers of the Year?
The Scientist has come up with a list of the top five hottest papers of 2009. Drawing on information from ScienceWatch and ISI, it reports that the top two topics of the year were stem cells and, no surprise to us here, genomics. The second-to-top paper is the Frazer et al Nature paper on the latest HapMap. And coming in first is the Yamanaka group's work on inducing pluripotent stem cells.