ENCODE, the rise of prenatal sequencing, and genomic medicine were among the big stories of 2012, according to year-in-review reports from around the web.
Nature and Scientific American include the ENCODE results on their lists of top science stories of the year, as does Science, which also includes the sequencing of the Denisovan genome among the most important stories of 2012.
Nature also tapped Jun Wang, the head of BGI, for its roundup of 10 "people who mattered" this year.
"As a public face for the institute, Wang uses his energy and self-effacing humor to highlight BGI's ambitions, which seem to include sequencing the genome of just about every organism on the planet," Nature says.
Wired, meantime, includes the rise of rare variants and genome sequencing for fetuses on its ranking of the top scientific discoveries of 2012.
23andMe's list of the 10 most interesting genetic findings of 2012 includes ENCODE and prenatal sequencing, but gives the top spot to the finding from Decode Genetics and collaborators that a variant in the APP gene could be protective against Alzheimer's disease.
The advance of genomic medicine was another big trend for the year. Luke Timmerman at Xconomy and Mark Wanner at the Jackson Lab's Genetics and Your Health blog both offer an overview of developments in the field in 2012.
Timmerman highlights the success of immune-sequencing firms Adaptive Biotechnologies and Sequenta, noting that "until recent advancements made DNA sequencing super-fast and super-cheap, nobody had any way to really look closely at the whole kaleidoscope of immune diversity, or the 'immune repertoire' that resides within any individual like you or me."
Wanner says that a key trend for 2012 is an ongoing "attitude shift" about the discipline of genomic medicine.
"Occasional commentaries still complain about genomic medicine being overhyped (sometimes validly), but the hue and cry has largely been replaced by quieter contemplation of how to implement genomic advances in a safe, secure way," he says.
What amazes me most: not a
What amazes me most: not a single truly new idea was suggested in the field, no discoveries were made, all the noted achievement are just technical (cheaper sequencing with higher? accuracy?). The bombastic goal to sequence all living organisms is just laughable demonstrating low input, high throughput science not guided by ideas. Michael Lerman, M.D., Ph.D.
Dr. Lerman, genomic Scrooge
Dr. Lerman, genomic Scrooge of the year!
Encode is the most important
Encode is the most important project in this year.
"JUST" cheaper sequencing
"JUST" cheaper sequencing with higher accuracy?
Sorry if it's not glamorous or revolutionary enough for you, but it means whole exome sequencing may be financially within reach for some of my patients who genuinely need it after they've tested negative for every known thing that remotely fits their symptoms. And getting a SNP array done in a reasonable length of time, with programs to help speed the analysis of regions of homozygosity, etc. is a meaningful advance in and of itself.
Are we forgetting the
Are we forgetting the possibilities that nano single molecule sequencing may bring?
Are we forgetting the
Are we forgetting the possibilities that nano single molecule sequencing may bring?
Typical academic (some would
Typical academic (some would say haughty) view of innovation. There is not a single new idea in what Apple does yet they seem to be affecting the lives of a lot of people in a positive way. I am amazed that as a self confessed Apple hater I am making a statement like this, but at least I am being open minded.
I disagree with Dr. Lerman.
I disagree with Dr. Lerman. These are, in fact, scientific discoveries. It is true that there are many fields, including these, that are being influenced by the newly developing tool of very fast and inexpensive DNA sequencing, but what is described here is not the development of that technology itself. This is no different from the flood of information that came to science about microorganisms on the heels of the development of the first microscope.