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.
Satoris Launches Protein-Based Parkinson's Study with Grant from Michael J. Fox Foundation
Satoris will use a panel of 500 signaling proteins and antibody-based quantitative nitrocellulose filter membrane array technology to search for candidate biomarkers for the disease. In May, it launched its first commercial products, protein panels for Alzheimer's disease and dementia.
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