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.
Moved into Permanent Home, SRI's CADRE Boosts Proteomics Work into Rx, Dx for Infectious Diseases
CADRE's new facility gives it more than 11 times the amount of space it previously had. As a result, it will now be able to hire additional scientists and support personnel, as well as add new instrument platforms for its proteomics work.
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