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.
NIH Launches Large Randomized Trial to Determine Utility of PGx-based Warfarin Dosing
NHLBI plans to launch next month the prospectively designed, randomized-controlled study, called Clarification of Optimal Anticoagulation through Genetics trial, which will follow 1,200 patients to see if PGx-guided dosing is clinically useful.
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