Article
Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes.
Nature communications - 26 Nov 2014
Hoehe Margret R, Church George M, Lehrach Hans, Kroslak Thomas, Palczewski Stefanie, Nowick Katja, Schulz Sabrina, Suk Eun-Kyung, Huebsch Thomas
Abstract excerpt
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...
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