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.
Roche's 454 Eyes Immune Repertoire Sequencing as Key Application for Long-Read Platform
Some researchers are looking at short-read platforms such as the Illumina Genome Analyzer for immunogenetics applications, but a 454 official said that the long read lengths of the company's platform — currently in the range of 400 or more base pairs — make it ideal for immunogenetics research.
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