Eun-Kyung Suk

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Full human genomic sequences have been published in the latest two years for a growing number of individuals. Most of them are a mixed consensus of the two real haplotypes because it is still very expensive to separate information coming from the two copies of a chromosome. However, latest improvements and new experimental approaches promise to solve these(More)
BACKGROUND A significant number of patients treated with anthracyclines develop cardiotoxicity (anthracycline-induced cardiotoxicity [ACT]), mainly presenting as arrhythmias (acute ACT) or congestive heart failure (chronic ACT). There are no data on pharmacogenomic predictors of ACT. METHODS AND RESULTS We genotyped participants of the German non-Hodgkin(More)
Determining the underlying haplotypes of individual human genomes is an essential, but currently difficult, step toward a complete understanding of genome function. Fosmid pool-based next-generation sequencing allows genome-wide generation of 40-kb haploid DNA segments, which can be phased into contiguous molecular haplotypes computationally by Single(More)
Independent determination of both haplotype sequences of an individual genome is essential to relate genetic variation to genome function, phenotype, and disease. To address the importance of phase, we have generated the most complete haplotype-resolved genome to date, "Max Planck One" (MP1), by fosmid pool-based next generation sequencing. Virtually all(More)
Periarticular calcification is a common attendant symptom of generalized arterial calcification of infancy, a rare Mendelian disorder caused by mutations of the gene coding for ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This prompted us to perform a family-based association study to test the hypothesis that genetic variation at the ENPP1(More)
OBJECTIVE To evaluate the relevance and necessity to account for the effects of population substructure on association studies under a case-control design in central Europe, we analysed three samples drawn from different geographic areas of Germany. Two of the three samples, POPGEN (n = 720) and SHIP (n = 709), are from north and north-east Germany,(More)
To fully understand human biology and link genotype to phenotype, the phase of DNA variants must be known. Here we present a comprehensive analysis of haplotype-resolved genomes to assess the nature and variation of haplotypes and their pairs, diplotypes, in European population samples. We use a set of 14 haplotype-resolved genomes generated by fosmid(More)
Peter Nürnberg, Michael Pfreundschuh, Lorenz Trümper, Jürgen Brockmöller and Gerd Mladen Tzvetkov, Anke Kruger, Silvia Seifert, Marita Kloess, Heidi Hahn, Markus Loeffler, Rosenberger, Stefan Vonhof, Heike Bickeböller, Mohammad Reza Toliat, Eun-Kyung Suk, Leszek Wojnowski, Bettina Kulle, Markus Schirmer, Gregor Schlüter, Albrecht Schmidt, Albert Associated(More)
Haplotype resolution of human genomes is essential to describe and interpret genetic variation and its impact on biology and disease. Our approach to haplotyping relies on converting genomic DNA into a fosmid library, which represents the entire diploid genome as a collection of haploid DNA clones of ~40 kb in size. These can be partitioned into pools such(More)
Human genomes are diploid. To link genetic variation to gene function and phenotype, it is essential to determine the specific distribution of variants between the two homologous chromosomes. Here we present a fosmid pool-based next generation sequencing approach to haplotype-resolve whole genomes and its application to the analysis of multiple individuals.(More)