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  Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes

Hoehe, M. R., Church, G. M., Lehrach, H., Kroslak, T., Palczewski, S., Nowick, K., et al. (2014). Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes. Nature Communications, 5: 5:5569. doi:10.1038/ncomms6569.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0026-B274-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0026-B275-8
Genre: Journal Article

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 Creators:
Hoehe, Margret R.1, Author              
Church, George M., Author
Lehrach, Hans2, Author              
Kroslak, Thomas2, Author
Palczewski, Stefanie2, Author
Nowick, Katja, Author
Schulz, Sabrina2, Author              
Suk, Eun-Kyung2, Author              
Huebsch, Thomas1, Author              
Affiliations:
1Genetic Variation, Haplotypes, and Genetics of Complex Disease (Margret Hoehe), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479651              
2Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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 Abstract: 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 clone-based sequencing, complemented and expanded by up to 372 statistically resolved genomes from the 1000 Genomes Project. We find immense diversity of both haploid and diploid gene forms, up to 4.1 and 3.9 million corresponding to 249 and 235 per gene on average. Less than 15% of autosomal genes have a predominant form. We describe a ‘common diplotypic proteome’, a set of 4,269 genes encoding two different proteins in over 30% of genomes. We show moreover an abundance of cis configurations of mutations in the 386 genomes with an average cis/trans ratio of 60:40, and distinguishable classes of cis- versus trans-abundant genes. This work identifies key features characterizing the diplotypic nature of human genomes and provides a conceptual and analytical framework, rich resources and novel hypotheses on the functional importance of diploidy.

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Language(s): eng - English
 Dates: 2014-11-26
 Publication Status: Published online
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 Rev. Type: Peer
 Identifiers: DOI: 10.1038/ncomms6569
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Title: Nature Communications
  Abbreviation : Nat. Commun.
Source Genre: Journal
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Publ. Info: London : Nature Publishing Group
Pages: - Volume / Issue: 5 Sequence Number: 5:5569 Start / End Page: - Identifier: ISSN: 2041-1723
CoNE: https://pure.mpg.de/cone/journals/resource/2041-1723