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.
UK's Epistem Inks Two-Year Stem-Cell Drug-Discovery Collaboration With Novartis
Under terms of the deal, Novartis will give Epistem a $4 million upfront payment and provide funding to study the stem cell shop's drug targets. Epistem could also get up to $45 million in milestone payments for each product developed from targets licensed under the agreement.
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