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.
Mobidiag's Array-Based Test for Sepsis Gets Boost from UK, Finnish Patient Study
CEO Jaakko Pellosniemi told BioArray News week that the recent study might be able to give Mobidiag traction in a market where it is competing against an established technology.
New to GenomeWeb? Register quickly here.