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.
Biomanycores Repository Seeks to Bridge Bioinformatics Software and GPU Computing
French researchers launched the repository, called Biomanycores, in early 2009. It currently includes GPU-enabled implementations of three bioinformatics packages as well as interfaces with BioPerl, BioJava, and BioPython.
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