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.
23andMe Partners with Personalized Rx Platform Developer on Parkinson's Project
PatientsLikeMe, the developer of a platform for collecting and sharing outcome-based patient data, will help 23andMe recruit 10,000 people for a large study on Parkinson's disease.
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