Copy Number Variation

New Paper – The evolutionary roots of disease susceptibility and complex copy number variation

We just published a paper in Genome Biology and Evolution – “Atopic Dermatitis Susceptibility Variants In Filaggrin Hitchhike Hornerin Selective Sweep“. It describes the unusual history of the genetic variation affecting the skin structural protein fillagrin.

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New Paper in Genome Research: Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division

We have a new paper regarding variation of retrotransposed genes among healthy individuals: In primates and other animals reverse transcription of mRNA followed by genomic integration creates retroduplications. Expressed retroduplications are either ‘retrogenes’ coding for

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New Paper in PNAS: Primate genome architecture influences structural variation mechanisms and functional consequences

Our efforts to resequence and analyze primate genomes with a focus on genomic structural variation has now been published. Here is the link for the paper and here is the link for the curated datasets. The

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