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.
Life Tech Says Phase-Out of CE Systems is 'Largely Complete' as Next-Gen Sequencing Gains Traction
Life Technologies officials said that less than 5 percent of the company's revenue currently comes from next-generation sequencing, but forecast double-digit growth of next-gen revenues in 2010.
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