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.
Now We Know Why They Need So Many Reviewers
If you'd rather believe the NIH review process is a smooth and efficient one, you'd better skip to the next post. At his Genomics, Evolution, and Pseudoscience blog, Steven Salzberg airs his frustration with one small part of the study section process -- namely, password protection for proposals. Salzberg receives grant applications for review on a CD, and each proposal is password-protected. Here's where the comedy routine begins:
"Even though I have the CD, I can’t open and read any proposal without the password. To get the password, I have to login to the NIH website using another password. The CD password, mind you, is a one-time password that only works for this CD – at each meeting of the study section, we get a new CD and a new password," he writes. "We have to type in the password EVERY time we open a proposal. This means that when we have the actual meeting, each of us is frantically typing in the password every time we try to open a proposal. ... This is ridiculous. Does NIH want us to read the proposals, or not?"
