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In this study, emulsion haplotype fusion PCR was used to build a structural haplotype across a complex and structurally variable region using the DEFA1A3 locus as an example.
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The approach of integrating allele-specific sequence data from both telomeric and centromeric emulsion systems to build up a structural haplotype at DEFA1A3 was then investigated in NA12760 and NA12878, two 5-copy individuals of unknown haplotype composition.
These experimental data guided us to build a structural model, using the Kv1.2 crystal structure as a template [13].
Combining data from both emulsion systems allows a structural haplotype to be assembled.
In order to build up the structural haplotype for these 5-copy individuals, the nature of the most telomeric and centromeric repeats was established by emulsion PCR and allele-specific sequencing from both centromeric and telomeric emulsion systems respectively.
In order to build up the structural haplotype, sequence variants within the gene were first identified by (non-emulsion) PCR and sequencing using the centromeric emulsion primers F1 to F2'R1.
In the second step, we use the phased haplotypes to build a haplotype frequency model, and for each candidate IBD segment we calculate the likelihood of an IBD model (one haplotype shared IBD) and of a non-IBD model (no haplotypes shared IBD).
That is, while HapCut can build a partial haplotype of length 200 in 25 s, its running time increases to 784 s when the length of the haplotype increases to 1000 SNPs.
Our objective is to build a fast haplotype assembly model where computationally intensive tasks are executed before execution of the iterative process.
His institute plans a workshop next week, he said, on how to build a haplotype map of the genome.
Therefore, it is more reasonable to build a customized structural candidate list for each sequence segment.
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