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.
Maryland Names Winners of Inaugural $3M Nanobiotech Grant Program
The University of Maryland system will benefit most from the awards: Overall, eight of the 12 projects involve a UM school or institute, while UM-College Park is lead institute on four of the projects. Johns Hopkins is a lead institute on two projects and collaborator on another.
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