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.
Research into Cancer, Diabetes, and Other Diseases Puts Spotlight on Clinical Proteomics at HUPO
Clinical proteomics may have a spotty and troubled history, but at the Human Proteome Organization's annual conference in Toronto, the push to move proteomics from the research lab to the clinical setting was everywhere to be seen.
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