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.
Wayne State U and MITRI Partner to Move Neuro Rx Candidates to Clinical Trials
WSU and the Michigan Technology and Research Institute are seeking funding to form a company to shepherd to clinical trials WSU's first candidate, a triple uptake inhibitor for treating depression. They eventually hope to attract a pharma partner for further development.
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