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.
Genomic Health's Colon Cancer Dx Meets Prognostic, Not Predictive, Endpoint; Will Debut in 2010
The assay, based on the Oncotype DX platform, met the primary endpoint for determining the likelihood of post-operative disease recurrence in patients with stage II colon cancer, but did not meet the endpoint for the ability to predict benefit from post-operative 5-fluorouracil/leucovorin treatment.
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