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Hi, This site intended as a portal to Omer Gokcumen’s writings and research. Please contact gokcumen at gmail dot com if you have any questions or if you want to use any of the images/text published in this site.

Introduction to Human Genetics” talk series, which I also contributed, is online in the Henry Stewart Talks website.   If you are interested, you can listen to the first 10 minutes of my lecture on “Copy Number Variation

Citation:Gökçümen, Ö. (2009), “Copy Number Variation”, in Veeramah, K. (ed.), Introduction to Human Genetics: Fundamentals and latest advances, The Biomedical & Life Sciences Collection, Henry Stewart Talks Ltd, London (online at http://hstalks.com/?t=BL0192529-Gokcumen)

Cogito’nun 2009 Kış sayısı oldukça zengin bir Darwin derlemesi çıktı.  Duygu Özpolat ile beraber yazdığımız, “Evrimin Işığında İnsan ve Düşün” yazısı da bu sayıda bulabilirsiniz.

Kimlikler Lütfen

Gönül Pultar‘ın hazırladığı, içinde benim de Genetik ve Kimlikler üzerine yazdığım bir yazı bulunan  ”Kimlikler Lütfen” isimli derleme çıktı.  Üzerinden biraz zaman geçmiş olmasına rağmen sanıyorum bu kitabın içeriği bugün daha da anlamlı.

NHP 2009 – Macaque CNVs

I gave a talk at NHP 2009 about copy number variants among rhesus macaques.  You can reach the abstract of this talk from here.

Copy Number Variation across the human genome

In a collaborative effort that I am involved in, the copy number variation among 20 Yoruban and 20 European individuals are mapped and a portion of these are genotyped across world populations.  This data set will be an important source for the months/years to come for study of the genomes.

For the article: Origins and functional impact of copy number variation in the human genome : Article : Nature.

For the press release: Jumping genes, gene loss and genome dark matter

İTÜ Moleküler Biyoloji ve Genetik Kulübü’nün düzenlediği, İTÜ III. Ulusal Moleküler Biyoloji ve Genetik Öğrenci Kongresi’nde uzaktan bir konferans verme fırsatı buldum.  Gerçekten hem artık bu tip uzaktan konferansların olanaklı olduğunu göstermesi açısından çok hoştu, hem de çok zaman geçirdiğim Boğaziçi Bilim Kulübü’ndeki zamanlarımı hatırlattı.

Konuşmam sırasında, çok kabaca genetik çeşitliliğin ne kadar karmaşık yapılar oluşturduğundan ve bu yapıları ancak şimdi, yeni teknolojiler sayesinde görebildiğimizden bahsettim.  İlginizi çekerse kısaltılmış hali ile slaytlarımı bu sayfada bulabilirsiniz.

A popular science article that I co-authored with Timur Gültekin has been recently put online (to my surprise).  Here is the link to the article:

Genetik Bilgi – TÜBİTAK Bilim ve Teknik Aylık Popüler Bilim Dergisi

I was a part of a large group of people that characterized, in very fine detail, the genome of a Korean individual.  I think this paper will have a significant impact in many technical subtleties relevant to large sequencing projects.   Also, I think some of the population genetics and biomedical insights are remarkable.  Of course, the emerging importance of copy number variants (CNVs) in shaping genomes is another message underlying this paper.  It is also open access, so you can reach it from Nature’s website.

We have a new paper out ahead of print in an Elsevier Journal called Methods. Here is the PubMed link.

A substantial amount of genomic variation is now known to exist in humans and other primate species. Single nucleotide polymorphisms (SNPs) are thought to represent the vast majority of genomic differences among individuals in a given primate species and comprise about 0.1% of the genomes of two humans. However, recent studies have now shown that structural variation may account for as much as 0.7% of the genomic differences in humans, of which copy number variants (CNVs) are the largest component. CNVs are segments of DNA that can range in size from hundreds of bases to millions of base pairs in length and have different number of copies between individuals. Recent technological advancements in array technologies led to genome-wide identification of CNVs and consequently revealed thousands of variable loci in humans, comprising as much as 12% of the human genome (iafrate1). CNVs in humans have already been associated with susceptibility to certain complex diseases, dietary adaptation, and several neurological conditions. In addition, recent studies have shown that CNVs can be successfully implemented in population genetics research, providing important insights into human genetic variation. Nevertheless, the important role of CNVs in primate evolution and genetic diversity is still largely unknown. This chapter aims to outline the strengths and weaknesses of current comparative genomic hybridization array technologies that have been employed to detect CNV variation and the applications of these techniques to primate genetic research.

Dr. Krishna Veeramah from UCLA and I got a Wenner Gren Foundation grant to organize a workshop.  This event, entitled “Genetic Anthropology at Fine Scales” will host several leading scientists and social scientists to discuss several issues regarding genetic anthropology.  For more information you can visit the website.

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