New review: An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health

A new review paper by the mighty @marie_saitou on the difficulties and promises in integrating evolutionary framework and investigation of genomic structural variants. We talk a lot about how structural variants of different types likely affect function and have evolutionary impact on human phenotypic variation. But, we keep missing these signatures because: 1. They are … Continue reading New review: An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health

New Paper: A new method to investigate the haplotype context of duplicated genes

We have reported a computational method to detect the haplotypes harboring polymorphic gene duplications in the human genome variation dataset. This study is now published in Genome Biology and Evolution. The maestro (is it maestra?), herself drew an amazing image to accompany the piece (hopefully the next cover of the journal?).  Polymorphic duplications can be … Continue reading New Paper: A new method to investigate the haplotype context of duplicated genes

New paper: Independent amylase gene duplications

Stefan (Ruhl) and I recently published a comprehensive survey of the amylase gene copy number and salivary enzyme activity among mammalian species eLife. Petar (Pajic) was the driving force for the sample collection and analysis. Briefly, we found that 1. Amylase copy number evolves extremely fast leading to independent (I daresay convergent) bursts among mammals … Continue reading New paper: Independent amylase gene duplications

New paper: Hotspots of structural variation

Onta (Yen Lung Lin) led the charge in this careful characterization of regions in the genome where that lead to the recurrent formation of structural variation. The paper "Fine-scale characterization of genomic structural variation in the human genome reveals adaptive and biomedically relevant hotspots" is now published in GBE.  This paper has given us some … Continue reading New paper: Hotspots of structural variation

New Paper: An incomplete sweep of a metabolizing gene

A whole gene deletion sounds awful! You lose one entire gene and hence the protein that this gene is coding.  However, there exist several gene deletions which have been maintained polymorphically among human populations. In our previous work, we found that a cellular detoxification gene, the GSTM1, to remain polymorphically deleted in both humans and … Continue reading New Paper: An incomplete sweep of a metabolizing gene

New paper: Structural variants are awesome – And they affect detoxification genes

Our lab has been excited by genomic structural variation because we believe that they underlie a considerable and underappreciated part of the phenotypic variation in primates. It is just that they are challenging to study and come up with straightforward evolutionary stories. Most of the time, what we find is much more complicated than we … Continue reading New paper: Structural variants are awesome – And they affect detoxification genes

New paper: Evolutionary history of a common psoriasis associated deletion

Following up our earlier insights into "ancient" human deletion polymorphisms that are shared with Neanderthals or Denisovans, we published a paper in BMC Evolutionary Biology, describing a small, but neat example of likely balancing selection acting on a large, common and psoriasis-associated deletion in humans. The haplotype that harbors this deletion show unusually high variation and an … Continue reading New paper: Evolutionary history of a common psoriasis associated deletion