Gundula Povysilphone: +43-732-2468-4531 e-mail: [email protected] Room: S3 327 (Computer Science Building, Science Park 3) |
Education
- 10/2017: Graduation from the Johannes Kepler University Linz with the degree Dr. rer. nat. (PhD)
- Thesis: Analyzing NGS Data with Machine Learning - From IBD Segments to Copy Number Variations
- 2013 - 2017: PhD Studies Bioinformatics, Johannes Kepler University Linz
- 02/2013: Graduation from the Johannes Kepler University Linz with the degree MSc.
- Thesis: IBD Mapping of Autism Microarray Data - Beyond Linkage and Association Mapping
- 2010 - 2013: Master Studies Bioinformatics, Johannes Kepler University Linz
- 07/2010: Graduation from the Medical University Vienna with the degree Dr. med. univ. (MD)
- 2008 - 2009: Diploma theses at the Institute of Medical Genetics, Vienna (Proportion of SPRED1 mutation carriers in NF1-negative children with café-au-lait spots)
- 2004 - 2010: Medical studies, Medical University Vienna
- 06/2004: Matura (high school graduation) at BG/BRG Khevenhüller with distinction
- 1996 - 2004: Secondary School: BG/BRG Khevenhüller, Linz
- 1992 - 1996: Elementary School: Volksschule Römerberg, Linz
Research Topics
- Machine Learning
- Deep Learning
- Genetics
- Sequence Analysis
- Copy Number Variations
- Disease Associations
- Population Genetics
- Identity by Descent (IBD) Detection
Software
panelcn.mops R package: CNV detection tool for targeted NGS panel data.- Available at Bioconductor:
panelcn.mops
- Github:
https://github.com/bioinf-jku/panelcn.mops
Papers
- Povysil G., Tzika A., Vogt J., Haunschmid V., Messiaen L., Zschocke J., Klambauer G., Hochreiter S. and Wimmer K. (2017).
panelcn.MOPS: Copy number detection in targeted NGS panel data for clinical diagnostics.
Human Mutation 38 (7): 889-897. doi:10.1002/humu.23237
Abstract
- Clevert D.-A., Unterthiner T., Povysil G and Hochreiter S. (2017).
Rectified Factor Networks for Biclustering of Omics Data.
Bioinformatics, 33 (14): i59-i66. doi:10.1093/bioinformatics/btx226
Abstract
- Povysil G, Hochreiter S. (2016).
IBD Sharing between Africans, Neandertals, and Denisovans.
Genome Biology and Evolution 8 (12): 3406-3416. doi:10.1093/gbe/evw234
Abstract
- Povysil G, Hochreiter S. (2014). Sharing of very short IBD segments between humans, Neandertals, and Denisovans. bioRxiv.
Talks
- ÖGH 2016, Vienna, Austria: panelcn.MOPS: CNV detection in targeted panel sequencing data for diagnostic use
- ASHG 2015, Baltimore, MD, USA: IBD sharing in the 1000 Genomes Project Phase 3 data reveals relationships from Neandertals to present day families
Posters
- NIPS Workshop on ML in Computational Biology 2017, Long Beach, CA, USA: HapRFN: Rectified Factor Networks for identifying short IBD segments
- WiML 2017, Long Beach, CA, USA: panelcn.MOPS - a mixture of Poissons model for copy number detection
- ESHG 2017, Copenhagen, Denmark: panelcn.MOPS: CNV detection in targeted NGS panel data for clinical diagnostics
- WiML 2016, Barcelona, Spain: HapRFN: a deep learning method for identifying short IBD segments
- ASHG 2016, Vancouver, Canada: panelcn.MOPS: CNV detection in targeted panel sequencing data for diagnostic use
- ASHG 2015, Baltimore, MD, USA: panelcn.MOPS reaches clinical standards as a CNV detection tool for targeted panel sequencing data
- SMBE 2015, Vienna, Austria: Early Interbreeding between Ancestors of Humans, Neandertals, and Denisovans within Africa
- ASHG 2014, San Diego, CA, USA: Population specific patterns of novel haplotype groups at the PAH locus
- ASHG 2013, Boston, MA, USA: IBD Mapping of Autism Microarray Data
- ASHG 2012, San Francisco, CA, USA: Detection of identity by descent based on rare variants
- HGV 2012, Shanghai, China: Identifying IBD tracts that are tagged by rare variants
- ISMB 2012, Long Beach, CA, USA: Comparison of IBD detection methods with a focus on rare variants
Teaching Experience
- Summer semester 2015 - 2016: Exercises in Theoretical Concepts of Machine Learning & Exercises in Machine Learning: Unsupervised Techniques
- Summer semester 2014 and 2017: Special Topics on Bioinformatics: Population genetics
- Summer semester 2013: Exercises in Theoretical Bioinformatics and Machine Learning
- Winter semester 2012/13 - 2017/18: Exercises in Sequence Analysis and Phylogenetics