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
http://mashable.com/2014/11/13/tallest-shortest-man-record Great images illustrating the extent of human variation

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DNA Double Take

September 18, 2013

Great @carlzimmer article on #mosaicism. However, its scale is much less than natural or cancer variation http://nyti.ms/15ymYlJ 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.

http://www.nytimes.com/2013/09/17/science/dna-double-take.html

Distributed variation prefers the golden mean – Gene Expression | DiscoverMagazine.com

September 16, 2013

#Variation prefers the golden mean: Moderate selection involves many loci v weak & strong, few http://bit.ly/18MgU6p via @drbachinsky
Moderate selection, many loci; Weak or strong selection, few loci.
http://blogs.discovermagazine.com/gnxp/2013/09/distributed-variation-prefers-the-golden-mean/#.UjJTHmSG1MF

Gene intolerance scores in a Plos Gen paper

August 26, 2013

http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1003709#pgen-1003709-g006
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

http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2658.html 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

http://www.pnas.org/content/107/suppl.1/1725.full

Non-coding variation review

November 25, 2012

http://www.nature.com/nbt/journal/v30/n11/full/nbt.2422.html

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

September 9, 2012

http://www.ncbi.nlm.nih.gov/pubmed/21441354

QT:”
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

http://www.ensembl.info/blog/2012/02/24/ensembl-66-released/
Reg. Consequences Table:
http://useast.ensembl.org/Homo_sapiens/Variation/Mappings?db=core;fdb=funcgen;g=ENSG00000165655;r=10:77548257-77549257;rf=ENSR00001424941;t=ENST00000372524;v=rs116363646;vdb=variation;vf=2847155