ena-STUDY-MPIMG-16-10-2014-13:34:20:053-359
Haplotype phasing of 12 human genomes
We have established a novel fosmid-based approach to haplotype resolve whole genomes directly by next generation sequencing (NGS). The 12 haplotype-resolved genomes ‘Max Planck’ (MP) 2–13 are from a ‘Haploid Reference Resource’ of 100 fosmid libraries generated from 100 probands of a representative German population cohort. Variant positions within the genomes are detected, and identical alleles at heterozygous, haplotype-informative positions allow the haploid fosmids to be assigned to one of two physical haplotype sequences. This prepares the foundation to tile overlapping fosmids into long contiguous molecular haplotype sequences.
We have established a novel fosmid-based approach to haplotype resolve whole genomes directly by next generation sequencing (NGS). The 12 haplotype-resolved genomes ‘Max Planck’ (MP) 2–13 are from a ‘Haploid Reference Resource’ of 100 fosmid libraries generated from 100 probands of a representative German population cohort. Variant positions within the genomes are detected, and identical alleles at heterozygous, haplotype-informative positions allow the haploid fosmids to be assigned to one of two physical haplotype sequences. This prepares the foundation to tile overlapping fosmids into long contiguous molecular haplotype sequences.