Human genomes vary quite a bit from individual to individual. These differences include single nucleotide change in the DNA sequence, but even more variation comes from structural variants, which include additions, deletions and rearrangements of large segments of DNA. A recent study done by Professor Tobias Marschall and international colleagues used multiple advanced technologies to dive deeper than ever before to comprehensively characterize the structural variants present in three families, and what their functional consequences might be.
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Professor Andreas Keller from the Center for Bioinformatics at Saarland University is leading a research project at Stanford University in Silicon Valley for one year. The aim is to gain a better understanding of how diseases such as Alzheimer's and Parkinson's develop in the human body at the single-cell level. The aim is to identify such widespread diseases earlier and open up new therapeutic options. The Schaller-Nikolich Foundation in Heidelberg is financing the stay with one million US dollars.
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| Published in: | Proceedings of the SIAM International Conference on Data Mining (SDM) |
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| Year: | 2013 |
| Pages: | 37-45 |