Posts Tagged ‘variation’

The tallest man and the shortest man in the world meet for a day

November 15, 2014

The tallest & shortest man in the world meet for a day Great images illustrating the extent of human variation

DNA Double Take

September 18, 2013

Great @carlzimmer article on #mosaicism. However, its scale is much less than natural or cancer variation MT @darnelr

Might have been worth mentioning that the amount of somatic variation in healthy cells appears to be considerably less than the variation between people or between a tumor and normal genome.

Distributed variation prefers the golden mean – Gene Expression |

September 16, 2013

#Variation prefers the golden mean: Moderate selection involves many loci v weak & strong, few via @drbachinsky
Moderate selection, many loci; Weak or strong selection, few loci.

Gene intolerance scores in a Plos Gen paper

August 26, 2013
This paper discusses gene intolerance score — very similar to depletion of common polymorphisms. They don’t analyze non-coding regions — this is using exome data only. Blue for tolerant and red for intolerant (see Figure 1) .

Genome-wide inference of natural selection on human transcription factor binding sites

June 10, 2013 Uses only CG data for variation, only TFBS data form ENCODE. QT:”the binding sites of several transcription factors show clear evidence of adaptation.”

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

April 9, 2013

Paper giving a conceptual framework to somatic mosaicism

Non-coding variation review

November 25, 2012

Increased number of microRNA target sites in genes encoded in CNV regions. Εvidence for an evolutionary ge nomic interaction?

September 9, 2012

By performing in silico whole genome analysis, we demonstrate that both the number of miRNAs that target genes found in CNV regions as well as the number of miRNA-binding sites are significantly higher than those of genes found in non-CNVregions.

Ensembl 66 has been released! | Ensembl Blog

April 29, 2012
Reg. Consequences Table:;fdb=funcgen;g=ENSG00000165655;r=10:77548257-77549257;rf=ENSR00001424941;t=ENST00000372524;v=rs116363646;vdb=variation;vf=2847155