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.
Protagen Hopes to Have Diagnostics Deal Inked by End of 2010, Says CEO
CEO Stefan Muellner told BioArray News last week that Protagen has shifted its business strategy from developing tests on its UniArray protein chip platform to discovering panels of biomarkers that can later be brought to market by bigger firms.
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