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.
Investment Bank Reports Advantage of CLIA Labs in Driving Adoption of OncotypeDX
Citing the FDA's handling of KRAS testing for anti-EGFR monoclonal antibodies, the report asserts that in the near term complex genetic tests such as Oncotype DX should be "performed through CLIA labs, and not held up by slow regulatory processes."
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