Analysis of Multiallelic CNVs by Emulsion Haplotype Fusion PCR.
Emulsion-fusion PCR recovers long-range sequence information by combining products in cis from individual genomic DNA molecules. Emulsion droplets act as very numerous small reaction chambers in which different PCR products from a single genomic DNA molecule are condensed into short joint products, to unite sequences in cis from widely separated genomic sites. These products can therefore provide information about the arrangement of sequences and variants at a larger scale than established long-read sequencing methods. The method has been useful in defining the phase of variants in haplotypes, the typing of inversions, and determining the configuration of sequence variants in multiallelic CNVs. In this description we outline the rationale for the application of emulsion-fusion PCR methods to the analysis of multiallelic CNVs, and give practical details for our own implementation of the method in that context.
School of Life Sciences, University of Nottingham Medical School, Queen's Medical Centre, Nottingham, NG7 2UH, UK.
Jess
J
Tyson
School of Life Sciences, University of Nottingham Medical School, Queen's Medical Centre, Nottingham, NG7 2UH, UK. john.armour@nottingham.ac.uk.
John A L
JA
Armour
D000483:Alleles; D056915:DNA Copy Number Variations; D004655:Emulsions; D006239:Haplotypes; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*
D004655:Emulsions
CNV; DNA sequencing; Emulsion; Haplotype; Phase; Structural variation