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.
Onconome Sues Researcher, Pitt, and Hopkins for Alleged Research Fraud over Prostate Biomarkers
The most recent suit, filed last week, alleges that the researcher misrepresented and falsified data related to prostate cancer biomarkers after Onconome sponsored "millions of dollars" of research at his University of Pittsburgh and Johns Hopkins University labs to see if the technology could lead to a clinical diagnostic test for prostate cancer.
New to GenomeWeb? Register quickly here for free access.