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.
Shimadzu Steps into Void, Brings Edman Sequencers to North America
Six months after North American researchers were left without a manufacturer and supplier of new Edman sequencers, Shimadzu will be bringing the instrument overseas, company officials told ProteoMonitor last week.
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