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.
BioNanomatrix Plans Beta-Launch of Single-Molecule DNA Analyzer for Q2 of 2010
The Philadelphia-based Princeton University spinout plans to use $830,000 in new supplemental grant funding from the National Human Genome Research Institute to prepare for beta-testing of its NanoAnalyzer next year.
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