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                      Lili Milani

                      Keynote Speaker

                                               Estonian Genome Center; Tartu University

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Lili Milani obtained her PhD degree in Molecular medicine at Uppsala University in 2009. Today she is a Senior Researcher at the Estonian Genome Center, University of Tartu, Estonia. Based on her research and as the author of several high impact research papers and the former Head of the Sequencing and Genotyping Core Facility at the Genome Centre she holds extensive expertise in human genomics, pharmacogenomics and translational medicine.
 

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Selected publications:

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  • Neuregulin signaling pathway in smoking behavior. Gupta et al. Translational Psychiatry, 2017. doi:10.1038/tp.2017.183

  • Biological insights from 108 schizophrenia-associated genetic loci. Ripke et al. Nature, 2014. doi:10.1038/nature13595

  • Genetic studies of body mass index yield new insights for obesity biology. Locke et al. Nature, 2015. doi:10.1038/nature14177

​                       Richard Rosenquist Brandell

                                                 Karolinska Institutet

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Richard is a professor in clinical genetics, leading a group of researchers working with molecular hematology with focus on translational research of chronic lymphocytic leukemia (CLL). He has also been appointed a Senior Physician of Clinical Genetics at Karolinska University Hospital. Besides these two duties, Richard is a Platform Director at National Diagnostics Development Platform of the SciLifeLab. Currently, he is coordinating a Genomics Medicine Sweden initiative, aiming at building a national infrastructure that facilitates implementation of individualized therapy in Swedish healthcare system.

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Selected publications:

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  • Antigen receptor stereotypy in chronic lymphocytic leukemia. Stamatopoulos K., Agathangelidis A., Rosenquist R., and Ghia P. Leukemia, 2017. doi:10.1038/leu.2016.322

  • Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. Law et al. Nature Communication, 2017. doi:10.1038/ncomms14175

  • Possible Interaction Between Cigarette Smoking and HLA-DRB1 Variation in the Risk of Follicular Lymphoma. Baecklund et al. American Journal of Epidemiology, 2017. doi:10.1093/aje/kww118

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Speakers

​                         Adam Ameur

                                                     National Genomics Infrastructure - Uppsala

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Adam is a lead bioinformatician at one of the Uppsala-nodes of the NGI, working mainly with human genomics. He has been the coordinating development of SweGen: Swedish human reference genome database. Besides SweGen, Adam develops data analysis tools for studies of low-frequency mutations for clinical diagnostics and individualized therapy (BCR-ABL and TP53 in cancers and hepatitis C-virus). Besides, he is actively involved in development of several novel NGS applications.

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Selected publications:

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  • SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population. Ameur et al. European Journal of Human Genetics, 2017. doi:10.1038/ejhg.2017.130

  • CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects. Ameur A., Bunikis I., Enroth S. and Gyllensten U. Database, 2014. doi:10.1093/database/bau098

  • Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing. Cavelier et al. BMC Cancer, 2015. doi:10.1186/s12885-015-1046-y

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​                        Erik Johansson

                                                   Umeå University

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At the moment, Erik is a professor at Department of Medical Biochemistry and Biophysics at Umeå University. The main area of Erik's research is study of DNA replication mechanisms in eukaryotes, ï»¿in particular functions of DNA polymerase epsilon. Despite most of the work that Erik's group conducts recruits yeast as a model organism, one of the aspects of his research is understanding the role that defects in DNA proofreading and mismatch repair play in cancer. Erik was one of the first researchers in Sweden who has applied human whole-genome sequencing to study hereditary components in colorectal carcinomas.

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Selected publications:

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​                       Valtteri Wirta

                                                Clinical Genomics Facility, SciLifeLab

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Valtteri leads a Clinical Genomics Facility, with the main task to provide clinicians with diagnostics tools based on NGS, and to assist the patient treatment based on personalized genome information. Besides whole genome, transcriptome and exome sequencing, Valtteri's team provides targeted sequencing of genes and regions of clinical interest, as well as sequencing of clinical microbiome samples.

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Selected publications:

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  • Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Nilsson et al. Human Mutation, 2017. doi:10.1002/humu.23146

  • Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer. Malgerud et al. Molecular Oncology, 2017. doi:10.1002/1878-0261.12108

  • Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. Strannenheim et al. BMC Genomics, 2014. doi.10.1186/1471-2164-15-1090

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​                       Teresita Diaz de Ståhl

                                                 Karolinska Institutet

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Teresita is a senior researcher at the Department of Oncology and Pathology at KI, leading a research group working with brain tumors employing whole genome and epigenome sequencing. The group studies correlation between patient genotype and disease prognosis, as well as investigates possibilities of brain cancer diagnostics using NGS.

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Selected publications:

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  • Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation. Cetinkaya et al. BMC Cancer, 2013. doi:10.1186/1471-2407-13-231

  • Novel amplifications in pediatric medulloblastoma identified by genome-wide copy number profiling. Nord et al. Journal of Neurooncology, 2012. doi:10.1007/s11060-011-0716-0

  • Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors. Cunningham et al. Genes Chromosomes Cancer, 2011. doi:10.1002/gcc.20834

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