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.
Upstart Cell Biosciences Acquires Protein Forest as it Continues on Growth Curve
A year ago, the Santa Clara, Calif.-based nano-proteomics technology development company was preparing its first commercial launch. The Protein Forest deal is the second purchase in recent months for the company, which is still on the lookout to add to its portfolio.
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