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On Genomes and Government

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NIH Public Access

Over at PolITigenomics, David Dooling from Washington University in St. Louis blogs about a bill circulating in the US House of Representatives that's seeking to limit NIH's new mandatory public access policy. The bill would amend copyright law to prevent government agencies from forcing publishers to deposit publicly-funded research after any period of time. "The bill would shift rights away from the article authors, the researchers, and back to large publishing houses," Dooling blogs. He says open access proponents should write to their Congressional reps and urge them to oppose the bill.

politigenomics.com

Genomes for Everyone

Last month, Complete Genomics' announcement that it would soon be able to sequence human genomes for just $5,000 apiece had the community abuzz. Russ Altman blogged that with so much competition in the next-gen sequencing space, "soon we will be able to get our entire genome sequence basically for free." He says this could be a game-changer for medical fields: "We should be able to use this information to do some pretty good genome-informed medicine (like pharmacogenomics and more predictive diagnostics)." He adds that the scientific community will have to do its best to educate the public "about how to interpret their genome and how to use the information beneficially."

rbaltman.wordpress.com

Choose an Advisor

This month, the US will elect a new president — and bloggers are already raising their voices to encourage whichever candidate that will be to waste no time in naming a science advisor. Michael White at Adaptive Complexity says that "the political guys, if they are interested in reality-based government, should have input from a real scientist when making … decisions" about their administrative appointments to scientific agencies such as NIH. Meanwhile, a Wired blogger reported that Harold Varmus and Peter Agre helped Barack Obama craft his responses to the Science Debate 2008 questions.

scientificblogging.com/adaptive_complexity
blog.wired.com

Parkinson's Mutation

Google cofounder Sergey Brin availed himself of the personal genome services of 23andMe, headed up by his wife, Anne Wojcicki. In his blog, he writes that the scan revealed a mutation in the LRRK2 gene that accounts for a good portion of familial Parkinson's disease, and that his mother has the same mutation and has developed the disease. Brin says while the implications of the finding and the specific risk level associated with it are not entirely clear, he can now take measures to reduce his risk and to support Parkinson's research.

too.blogspot.com

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.