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.
Response Genetics Triples Sales Force on Growing Demand for Lung, Colon Cancer Dxs
The firm plans to increase its marketing team to 10 reps by the end of the month after selling 500 ResponseDX tests for lung and colon cancer since last September.
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