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.
Researchers Find Recurring Proteins in Biomarker Studies Due to Cellular Stress
Researchers in the Netherlands have identified 44 protein biomarkers that appear repeatedly in 2D gel electrophoresis-based disease biomarker studies and have linked them to cellular stress response, adding "in future proteomic studies, more profound approaches should be applied to look beyond these proteins to find specific biomarkers."
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