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.
U of Rochester Spinout CellTraffix Seeks to Bolster IP Position Through MIT Research
Researchers from the Massachusetts Institute of Technology and the University of Rochester have demonstrated how technology developed by UR spinout CellTraffix for selectively “trapping” blood cells might be adapted for human applications such as treating metastases, “reprogramming” stem cells, and diagnosing various diseases.
New to GenomeWeb? Register quickly here for free access.