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.
Addressing Pharma Demand, Almac Dx Opens Doors of New UK Bioinformatics Facility
Citing ongoing demand from the pharmaceutical industry and biotech firms, an Almac Diagnostics executive said that the company plans to expand its bioinformatics team next year beyond its current headcount of 20 staffers.
New to GenomeWeb? Register quickly here.