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.
Avey Leaves 23andMe to Start Alzheimer's Research Foundation Using DTC Genomics Firm's Platform
The new Alzheimer's disease research foundation to be launched by Linda Avey will use 23andMe's research platform and its database of genetic risk association information to investigate the causes and discover new treatments for the disease.
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