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.
Medco's Observational Studies May Provide Blueprint for Dx Evidentiary Methods Beyond RCTs
"I can go on and on and on about the silliness of randomized-controlled trials that are often required to demonstrate the value of diagnostics," Felix Frueh, vice president of research and development of personalized medicine at Medco, said during a conference last week.
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