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.
Big Array Vendors Promise New Chips, Acquisitions, and Diagnostics in 2009
2009 is likely to be a busy year for array manufacturers as firms with different resources and strengths seek to make good on previous promises to launch new chips and platforms, acquire complementary companies and technologies, and push new array-based tests out into the molecular diagnostics market.
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