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.
First Genetic Trust to Build Open Analysis Framework for NCI Gene Expression Portal
In an effort to spice up its new Gene Expresssion Data Portal and attract new users, the National Cancer Institute has enlisted First Genetic trust to add a wide selection of analytical tools to the repository s submission and search capabilities...Subscribers: click headline for more
New to GenomeWeb? Register quickly here.