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.
Pfizer Plans for First In-House RNAi Rx IND By 2011 as It Evaluates All Technologies
Having recently completed its acquisition of Coley Pharmaceutical, which specialized in modulating immune responses for therapeutic applications, Pfizer also sees the potential for combining RNAi with immune stimulation within a single drug.
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