Razib Khan One-stop-shopping for all of my content

October 21, 2012

One girl, one exome

Filed under: Open science,Personal genomics — Razib Khan @ 11:22 pm

Interesting story in The San Jose Mercury News, Open-source science helps San Carlos father’s genetic quest:

“We used materials that are public, freely available,” said Rienhoff, a physician and scientist, as Beatrice frolicked nearby. “And everything we’ve learned we’ve put back out there, in the public domain. It’s for the patient’s good, and the public good.”

Born with small, weak muscles, long feet and curled fingers, Beatrice confounded all the experts.

No one else in her family had such a syndrome. In fact, apparently no one else in the world did either.

Rienhoff — a biotech consultant trained in math, medicine and genetics at Harvard, Johns Hopkins and the Fred Hutchinson Cancer Research Center in Seattle — launched a search.

He combed the publicly available medical literature, researching diseases, while jotting down each new clue or theory. Because her ailment is so rare, he knew no big labs or advocacy groups would be interested.


In the end, basically he compared his daughter’s exome to that of everyone else in the family. By comparing in such a fashion he managed to zero in on a possible causal mutation. This is awesome (the fact that now they know, not the mutation itself). In the near ...

One girl, one exome

Filed under: Open science,Personal genomics — Razib Khan @ 11:22 pm

Interesting story in The San Jose Mercury News, Open-source science helps San Carlos father’s genetic quest:

“We used materials that are public, freely available,” said Rienhoff, a physician and scientist, as Beatrice frolicked nearby. “And everything we’ve learned we’ve put back out there, in the public domain. It’s for the patient’s good, and the public good.”

Born with small, weak muscles, long feet and curled fingers, Beatrice confounded all the experts.

No one else in her family had such a syndrome. In fact, apparently no one else in the world did either.

Rienhoff — a biotech consultant trained in math, medicine and genetics at Harvard, Johns Hopkins and the Fred Hutchinson Cancer Research Center in Seattle — launched a search.

He combed the publicly available medical literature, researching diseases, while jotting down each new clue or theory. Because her ailment is so rare, he knew no big labs or advocacy groups would be interested.


In the end, basically he compared his daughter’s exome to that of everyone else in the family. By comparing in such a fashion he managed to zero in on a possible causal mutation. This is awesome (the fact that now they know, not the mutation itself). In the near ...

July 21, 2012

You can’t scoop someone else’s brain

Filed under: Culture of Science,Open science,science — Razib Khan @ 10:07 pm

arXiving our papers:

I, and I’m sure other people, have worried about being scooped and beaten to publication due our arXived papers. But really this is silly as we’ve usually given talks, posters, etc on them at big conferences, so the idea that people somehow don’t know about our work before it appears in print is ridiculous. It is far better to get work out, once you consider it worthy of publication, so it can be read and cited by others.

This is in reference to the paper The Geography of Recent Genetic Ancestry across Europe. Go and read the materials and methods. I’m sure that a substantial minority of the readers of this weblog have used every single piece of software listed therein. Phasing and such requires a little bit of computational muscle, but that’s not an impossible hurdle. Additionally, many readers with academic affiliations could get their hands on the POPRES data set. But the generation of a paper, from methods to results to discussion, is not simply a robotic sequence of running data through software or algorithms. You need a first-rate statistical geneticist (e.g., the authors) to actually assemble the pieces together together coherently ...

August 31, 2011

An attempt at “open science”

Filed under: Open science,Personal genomics — Razib Khan @ 2:09 pm
I was asked by the person who provided me the Tutsi genotype for detailed results. Of course I would do so! So I uploaded the raw csv files to Google Docs. The format and explanation isn’t totally clear, though if you follow my posts you’ll get it. This is for people who want more than [...]

August 30, 2011

Where is the ArXiv for X?

Filed under: ArXiv,Open science,science — Razib Khan @ 12:36 pm

Derek Lowe asks “Why Isn’t There an ArXiv For Chemistry?” Where indeed. A few years ago I went to a talk given by Michael Eisen and asked him about why the biological sciences didn’t have an ArXiv, and one of his explanations was that intellectual property was more of a concern in this area (e.g., pharmaceutical funded research). That sounds plausible enough to me. But the existence of ArXiv still should serve as a starting point for people outside of the physical and mathematical sciences in terms of the possibilities. Much of the discussion around Joe Pickrell’s post ‘Why publish science in peer-reviewed journals?’ seemed to operate in a world where ArXiv didn’t exist. And it’s not just ArXiv, SSRN makes it easy to get papers in social science. We have the technology, and we see the possibilities. There are obstacles, but let’s not pretend as if we don’t have a model for some success.

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