Congratulations to Eaaswar. His paper, "Geographic Distribution And Adaptive Significance Of Genomic Structural Variants: An Anthropological Genetics Perspective" was chosen for the Annual Gabriel W. Lasker Award for the best original scientific article published in the journal, Human Biology. From the editors' words: "The award was created to recognize Professor Lasker's more than 40 years of service … Continue reading Lasker award for our paper in Human Biology
New paper on structural variants and their anthropological relevance
Congratulations to Eaaswar. His paper, "Geographic Distribution And Adaptive Significance Of Genomic Structural Variants: An Anthropological Genetics Perspective" is out as preprint. It is a general review and a example data analysis of existing structural variation datasets within an anthropological context. It also made the cover. 🙂 - We hope that it would be helpful to … Continue reading New paper on structural variants and their anthropological relevance
First paper from our lab – Ancient deletions strike again and mysterious ways of adaptive forces
We have our first paper from the Buffalo laboratory published at Molecular Biology and Evolution (link here, it is Open Access). The paper describes polymorphic human deletions that are shared with Neandertals or Denisovans. Most of these deletions are not introgressed from ancient hominins, but rather have been lingering around since before Human/Neandertal/Denisovan ancestor. As expected majority … Continue reading First paper from our lab – Ancient deletions strike again and mysterious ways of adaptive forces
Our first PCR Gel – Proud of my very young team
Thanks to efforts of Sara, Daniel and Brandon - Everything is functioning like clockwork (an analog one that you have to recalibrate once in a while - :)) - So, here is our first gel electrophoresis result of a small copy number variable exonic locus.
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 functioning proteins or expressed 'processed pseudogenes', which can function as noncoding RNAs. To date, little is known about the variation … Continue reading New Paper in Genome Research: Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division
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 study, I think, is a major step forward to understand evolution of primate genomes. Now that several papers from Eichler … Continue reading New Paper in PNAS: Primate genome architecture influences structural variation mechanisms and functional consequences
New paper in PLoS Genetics – Balancing Selection shaping the distribution of a common deletion variant
Finally, our manuscript entitled "Balancing selection on a Regulatory Region Exhibiting Ancient Variation That Predates Human–Neandertal Divergence" was published in PLoS Genetics. You can find it here... It is Open Access. Also, link to the post regarding the manuscript in Dienekes' Anthropology Blog. Note the several interesting points that commentators were raising. Another recent blog post … Continue reading New paper in PLoS Genetics – Balancing Selection shaping the distribution of a common deletion variant
Talk at #AAPA2013 – SVs and Primate evolution
I am giving a talk tomorrow at AAPAs that touches on the impact of genomic structural variation on the phenotypic diversity within and between primate species. For more details: Link
Genomeweb article on our work
Some of our work has been highlighted in a feature article in GenomeWeb: From the article entitled "Copy Machines": --- CNVs also have potentially significant implications for understanding evolutionary processes, Lee notes, citing a recent paper that he and his fellow Harvard researchers Rebecca Iskow and Omer Gokcumen published in Trends in Genetics in which they suggest that, although … Continue reading Genomeweb article on our work
Paper in Science – Landscape of Somatic Retrotransposition in Human Cancers
We have been busy for some time helping Dr. Peter Park's group in Harvard School of Public Health to validate and fine-tune calling somatic transposable elements (TEs) in human genome and, more importantly, in genomes of cancer cells using next generation sequencing data. I was very impressed by the accuracy of their method (note: even though next … Continue reading Paper in Science – Landscape of Somatic Retrotransposition in Human Cancers