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.
Talking It Out
March 09, 2009
Representative John Conyers (D-MI) responds to Michael Eisen and Lawrence Lessig's call for Conyers to defend why he is supporting the Fair Copyright in Research Act that would prohibit agencies from insisting that researchers make their data open access in return for federal funding. In the Huffington Post, Conyers says his bill will "restore longstanding federal copyright policy in this area. It reverses a provision slipped into an appropriations bill in the middle of the night, with no consultation with the Committee which is actually supposed to write the law in this area, the Judiciary Committee, which I chair."
Eisen responds on his blog. "Conyers' argument that the bill should have gone to his Judiciary committee rests on the dubious notion that NIH policy modifies copyright. But the policy in question does not alter copyright in any way," he writes.
