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.
Protea to Develop Albumin-capture Tool Based on Johns Hopkins Research
Jenny Van Eyk and others at JHU have discovered that during myocardial ischemia, the albumin molecule can change, which may prove clinically relevant. Protea plans to apply the findings to develop products to analyze albumin from the bloodstream.
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