linkstream2 microblog

https://www.genomeweb.com/sequencing/psychencode-studies-explore-brain-development-neuropsychiatric-regulatory-features#.XBRjaxNKgWo

http://www.bio-itworld.com/2018/05/09/carl-zimmer-to-speak-at-bio-it-world-tackle-heredity-genes-and-how-our-understanding-of-the-two-is-changing.aspx

QT:{{”
“It was a huge amount of fun watching them take that raw data and put it through their own pipelines,” Zimmer told me, but he also felt uncomfortable pointing out discrepancies to the scientists he worked with. “I still remember, I was sitting down with Chris Mason at Weill Cornell. He and his students were so enthusiastically going through their findings with me… and they showed me, among other things, how many SNPs I had. Not too long beforehand I’d gone through the same experience with Mark Gerstein and his team at Yale, and their numbers for my SNPs were off by hundreds of thousands. … It was a little awkward with Chris, but I just said, ‘Hey, I got a very different number from Mark Gerstein,’ and Chris just shrugged and said, ‘Oh yeah, that happens.’”

It turns out, there’s a lot about our current understanding of our genes and how we pass them on that isn’t perfectly clear cut. “}}

https://www.genome.gov/27566612/2016-news-feature-nih-supports-new-approaches-to-discovering—dna-differences-in-the-genomes-regulatory-regions-that-affect-disease-/

http://news.yale.edu/2015/07/20/making-miniature-brains-skin-cells-better-understand-autism

http://news.yale.edu/yale-researchers-participate-study-genetics-multi-substance-use-among-veterans

http://www.the-scientist.com/?articles.view/articleNo/42950/title/Microbiome-Fingerprints/

QT:{{”

As microbiome signatures mature, law enforcement or intelligence agents could theoretically track people by looking for traces of them left in the microbes they shed. Mark Gerstein, who studies biomedical informatics at Yale University and was not involved in the new study, suggested, for instance, that one could imagine tracking a terrorist’s movements through caves using their microbiome signature.

Huttenhower and his colleagues were identifying individuals out of pools of just hundreds of project participants, however. It is currently unclear how well the algorithm will perform when applied to the general population, though the researchers estimate that their code could likely pick someone out from a group of 500 to 1,000. “I would expect that number to get bigger in the future as we get more data and better data and better coding strategies,” Huttenhower said.

But the work raises privacy concerns similar to those faced by scientists gather human genomic data. Microbiome researchers are already wary of the human genomic DNA that gets caught up in microbiome sequences, but it increasingly appears that the microbiome sequences themselves are quite personal.

In the genomics field, researchers have increasingly limited access to databases containing human genomic sequencing data. Researchers must apply to use these data. “People might increasingly want to put the microbiome data under the same type of protection that they put normal genomic variants under,” said Gerstein. “Your microbiome is associated with various disease risks and proclivities for X and Y. I don’t think it’s a completely neutral identification. It potentially says things about you.”

“}}

http://yaledailynews.com/blog/2015/03/26/seas-receives-20-million-donation/

https://www.quantamagazine.org/20141218-machine-intelligence-cracks-genetic-controls/

QT:{{”

The splicing code is just one part of the noncoding genome, the area that does not produce proteins. But it’s a very important one. Approximately 90 percent of genes undergo alternative splicing, and scientists estimate that variations in the splicing code make up anywhere between 10 and 50 percent of all disease-linked mutations. “When you have mutations in the regulatory code, things can go very wrong,” Frey said.

“People have historically focused on mutations in the protein-coding regions, to some degree because they have a much better handle on what these mutations do,” said Mark Gerstein, a bioinformatician at Yale University, who was not involved in the study. “As we gain a better understanding of [the DNA sequences] outside of the protein-coding regions, we’ll get a better sense of how important they are in terms of disease.”

Scientists have made some headway into understanding how the cell chooses a particular protein configuration, but much of the code that governs this process has remained an enigma. Frey’s team was able to decipher some of these regulatory regions in a paper published in 2010, identifying a rough code within the mouse genome that regulates splicing. Over the past four years, the quality of genetics data — particularly human data — has improved dramatically, and
machine-learning techniques have become much more sophisticated, enabling Frey and his collaborators to predict how splicing is affected by specific mutations at many sites across the human genome. “Genome-wide data sets are finally able to enable predictions like this,” said Manolis Kellis, a computational biologist at MIT who was not involved in the study.

“}}

http://www.designntrend.com/articles/32141/20141223/ai-teams-up-genomics-find-disease-causing-mutations.htm

http://www.courant.com/health/hc-jackson-laboratory-20141002-story.html

QT:{{”

The facility is funded in part by $291 million from the state through a legislative act passed three years ago, largely along party lines. In general, Democrats backed the plan by Gov. Dannel P. Malloy’s administration, and Republicans said it was too much money in exchange for 300 jobs over the course of a decade.

…
About 150 people work at the Farmington location, most of them hired in the past 16 to 18 months,said Charles Lee, director of the Jackson Laboratory for Genomic Medicine.

…

Last week, as Lee arrived by plane in Seoul, Korea, to check on a collaborative research project there, he was greeted at the airport by media reporting on a recent announcement that Lee is a 2014 Thomson Reuters Citation Laureate, meaning that he is a strong contender this year for a Nobel Prize in physiology or medicine. Nobel winners will be announced Oct. 6.

…

The lab is headquartered in Bar Harbor, Maine, and it has another location in Sacramento, Calif. All told, the laboratory has an annual budget of $262.4 million for fiscal year 2014 and employs more than 1,500 people, mostly in Maine.

Much of its revenue — $165.3 million — comes from the JAX Mice & Clinical Research Services through its sale of mice to other researchers. Jackson Laboratory in Bar Harbor ships more than 3 million mice annually to researchers around the globe, Lee said.

The lab also received $69.6 million in public support, including grants and contracts in fiscal year 2014. The rest of its budget is funded by contributions and other sources.

In 10 years or so, the Farmington facility could become a $70 million-to-$75 million operation, said Mike Hyde, a spokesman for The Jackson Laboratory.

…

Jackson is partnering with various Connecticut hospitals and universities, too. Lee has reached out to researchers at Quinnipiac, Wesleyan and Yale.

“I already have a collaboration that’s funded by the NIH with Mark Gerstein, a full professor at Yale University,” Lee said. “I’m developing ties with Rick Lifton, who is the head of genetics at Yale.”

Perhaps the closest academic relationship, in proximity and in collaboration, is between Jackson and both the UConn Health Center and UConn School of Medicine.

}}