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Talking Genes and More


In the past few weeks, chatter in the ether has touched on accelerated human evolution, the number of genes in the human genome, open access to research papers, and, of course, consumer genomics.

Faster Evolution?

There’s been some back-and-forth on the blogs, wondering if human evolution has accelerated during the past 40,000 years as suggested by a paper published in the Proceedings of the National Academy of Sciences by John Hawks and his colleagues. The whole brouhaha started with p-ter at the Gene Expression blog raising some concerns — dealing with the article’s statistical power — which Hawks then addressed on his own blog. Evolgen’s RPM also got into the fray, saying that adaptive accelerated evolution is not the same as faster evolution; Hawks again responds, saying that neutral evolution in humans has accelerated as those genes “hitchhike” along with adaptive ones.

Open Access and NIH

As part of the omnibus spending bill that the US Congress recently passed, researchers funded by the National Institutes of Health will be required to submit peer-reviewed papers to PubMed Central no later than a year after publication. Steven Salzberg was quite happy about this one, though he writes in his blog that it is an imperfect solution since publishers still get to hoard the publicly funded research for 12 months. Pure Pedantry’s blogger Jake Young also likes the open-access news, but would have liked the NIH to receive a bigger budget increase than the paltry $329 million it was awarded.

Losing Genes

In a recent blog post, Steven Salzberg grieved for 4,000 lost genes. A study out in PNAS by the Broad Institute’s Michele Clamp and her colleagues says there are 20,500 protein-coding genes in the human genome, not the more recently accepted count of 24,500. Salzberg finds their method of aligning the human genome with dog and mouse compelling — especially since they then confirmed their findings by looking at the chimpanzee genome. Earlier in 2007, Carl Zimmer at the Loom blogged about how people had lost 8,000 genes in the six years since the draft human genome was published. Drawing his information from Panther, Zimmer has the number of genes down to 18,308.

Direct-to-Consumer Genomics

Consumer genomics is capturing the minds of bloggers everywhere. Not only is the DNA Network all over it with posts from Deepak Singh on surrendering privacy rights, Hsien-Hsien Lei on how candid people are about their test results, and VentureBeat’s David Hamilton on “corporate genomics,” but so is TechCrunch with Michael Arrington’s account of buying a test — and wondering if he can send in someone else’s spit instead. At her Discovering Biology in a Digital World blog, Sandra Porter explains how these companies interpret their data to give the consumer something meaningful. (Or not.)


The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.