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Haplotypsequenzierung menschlicher Genome

Personalisierte Genomik

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Abstract

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. In sum, our work provides novel insights into the true nature of genetic variation and exemplifies that haplotyping human genomes is mandatory to fully understand the biology of genes and genomes, identify disease mechanisms and advance individualized medicine.

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Literatur

  1. Hoehe MR (2003) Haplotypes and the systematic analysis of genetic variation in genes and genomes. Pharmacogenomics 4:547–570

    Article  CAS  PubMed  Google Scholar 

  2. Tewhey R, Bansal V, Torkamani A et al. (2011) The importance of phase information for human genomics. Nat Rev Genet 12:215–223

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Suk E-K, McEwen G, Duitama J et al. (2011) A comprehensively molecular haplotype-resolved genome of a European individual. Genome Res 21:1672–1685

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Duitama J, McEwen G, Huebsch T et al. (2012) Fosmidbased whole genome haplotyping of a HapMap trio child: evaluation of single individual haplotyping techniques. Nucleic Acids Res 40:2041–2053

    Article  CAS  PubMed  Google Scholar 

  5. Hoehe MR, Church GM, Lehrach H et al. (2014) Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes. Nat Commun 5:5569

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Suk E-K, Schulz S, Mentrup B et al. (2016) A fosmid poolbased next generation sequencing approach to haplotyperesolve whole genomes. Methods Mol Biol (im Druck)

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Authors and Affiliations

  1. AG Diploid Genomics, Abteilung Bioinformatik, Max-Planck-Institut für Molekulare Genetik, Ihnestraße 63–73, D-14195, Berlin, Deutschland

    Margret R. Hoehe, Eun-Kyung Suk & Thomas Huebsch

  2. Praxis für Humangenetik, Berlin, Deutschland

    Eun-Kyung Suk

Authors
  1. Margret R. Hoehe
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  2. Eun-Kyung Suk
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  3. Thomas Huebsch
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Corresponding author

Correspondence to Margret R. Hoehe.

Additional information

Margret R. Hoehe, Eun-Kyung Suk und Thomas Huebsch (v. l. n. r.) Im Fokus der Arbeitsgruppe „Diploid Genomics“ unter Leitung von Dr. Margret Hoehe ist die Entwicklung molekulargenetischer und bioin - formatischer Ansätze/Methoden zur Haplotyp - analyse menschlicher Genome, sowie deren Anwendung auf die Datenproduktion und -ana - lyse in großem Maßstab (Molekulargenetik Dr. Eun-Kyung Suk, Bioinformatik Dr. Thomas Hübsch). Mit gegenwärtiger Schwerpunktsetzung auf die Datenanalyse werden Gesetzmäßigkeiten zur Natur genetischer Variabilität und der Architektur diploider Genome, sowie deren Implikationen für Biologie, personalisierte Genomik und Medizin untersucht. Dr. Suk war bis 2012 Mitglied der Arbeitsgruppe.

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Hoehe, M.R., Suk, EK. & Huebsch, T. Haplotypsequenzierung menschlicher Genome. Biospektrum 22, 577–581 (2016). https://doi.org/10.1007/s12268-016-0730-z

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  • DOI: https://doi.org/10.1007/s12268-016-0730-z

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