Guest post from Alex Kogan: Size and populations matter–let’s understand why
[This is a guest post by Alex Kogan. Last week, Ed Yong at Not Exactly Rocket Science covered a paper positing an association between a genetic variant and an aspect of social behavior called...
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Phantom Heritability: What it does and doesn’t mean
Just out in prepublication at PNAS is a paper from Eric Lander’s lab, entitled, somewhat provocatively The mystery of missing heritability: Genetic interactions create phantom heritability. The authors...
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All genomes are dysfunctional: broken genes in healthy individuals
Breakdown of the number of loss-of-function variants in a "typical" genomeI don’t normally blog here about my own research, but I’m making an exception for this paper. There are a few reasons to single...
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Questioning the evidence for non-canonical RNA editing in humans
In May of last year, Li and colleagues reported that they had observed over 10,000 sequence mismatches between messenger RNA (mRNA) and DNA from the same individuals (RDD sites, for RNA-DNA...
View ArticleGuest post by Ben Neale: Evaluating the impact of de novo coding mutation in...
[Dr. Neale is currently an Assistant in Genetics in the Analytic and Translational Genetics Unit at Massachusetts General Hospital and Harvard Medical School and an affiliate of the Broad Institute of...
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Misapplied statistics in the OXTR/Prosociality story
Out in the PNAS Early Edition is a letter to the editor from four Genomes Unzipped authors (Luke, Joe, Daniel and Jeff). We report that we found a statistical error that drove the seemly highly...
View ArticleGuest post: Accurate identification of RNA editing sites from high-throughput...
[By Gokul Ramaswami and Robert Piskol. Gokul Ramaswami is a graduate student and Robert Piskol is a postdoctoral fellow in the Department of Genetics at Stanford University. Both study RNA editing with...
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Another “IQ gene”: new methods, old flaws
A very large genome-wide association study (GWAS) of brain and intracranial size has just been published in Nature Genetics. The study looked at brain scans and genetic information from over 20,000...
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The ENCODE project: lessons for scientific publication
The ENCODE Project has this week released the results of its massive foray into exploring the function of the non-protein-coding regions of the human genome. This is a tremendous scientific...
View ArticleGuidelines for finding genetic variants underlying human disease
Authors: Daniel MacArthur and Chris Gunter.New DNA sequencing technologies are rapidly transforming the diagnosis of rare genetic diseases, but they also carry a risk: by allowing us to see all of the...
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