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.
Bill Sponsor Says Prospects 'Pretty Good' for Patent-Reform Legislation to Pass This Year
PhRMA has also backed the bill after language was added giving more power to Federal judges to calculate patent-infringement damages by taking into account the various IP components supporting the product at the heart of the case.
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