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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)
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)
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)
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)
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)
  • Jorge Alexander, Duitama Castellanos, Yufeng Wu, Sanguthevar Rajasekaran, Craig Nelson, Mazhar Khan +15 others
  • 2010
The availability of large databases of genomic information has enabled research efforts focused on refining methods for diagnosis and treatment of human diseases. However, proper use of genomic databases can not be achieved without the development of sophisticated data analysis methods, which is by itself a challenging task due to the size and heterogeneity(More)
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