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.
Unable to Find Necessary Additional Funding, Vermillion Files for Chapter 11 Bankruptcy
The company remains in business and continues work to get FDA approval for its ovarian tumor triage diagnostic. In its filing, the company said it had assets of about $7.2 million and liabilities of approximately $32 million as of Sept. 30, 2008.
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