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.
Penn State Team Uses 454 Reads to Develop SNP-Calling Method for Endangered Species
Under a $1 million grant from the Gordon and Betty Moore Foundation, Penn State scientists have sequenced the genomes of two Tasmanian devils at low coverage on 454’s platform. Using new computational tools that do not require a reference genome, they have discovered SNPs that they hope will help their Australian colleagues select cancer-resistant devils for breeding.
New to GenomeWeb? Register quickly here.