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.
Nanotech, Single-Molecule Methods, Personalized Medicine Remain Top of Mind for VCs
Despite the recently soured economy, VCs have remained relatively optimistic about investment opportunities in the life science research tools and molecular diagnostics sectors, driven primarily by advances in nanotechnology, single-molecule genomics and proteomics techniques, and personalized medicine.
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