Recent Advances in Experimental Whole Genome Haplotyping Methods

Int J Mol Sci. 2017 Sep 11;18(9):1944. doi: 10.3390/ijms18091944.


Haplotype plays a vital role in diverse fields; however, the sequencing technologies cannot resolve haplotype directly. Pioneers demonstrated several approaches to resolve haplotype in the early years, which was extensively reviewed. Since then, numerous methods have been developed recently that have significantly improved phasing performance. Here, we review experimental methods that have emerged mainly over the past five years, and categorize them into five classes according to their maximum scale of contiguity: (i) encapsulation, (ii) 3D structure capture and construction, (iii) compartmentalization, (iv) fluorography, (v) long-read sequencing. Several subsections of certain methods are attached to each class as instances. We also discuss the relative advantages and disadvantages of different classes and make comparisons among representative methods of each class.

Keywords: haplotype; haplotyping; next generation sequencing; phasing.

Publication types

  • Review

MeSH terms

  • Animals
  • Genotyping Techniques / methods*
  • Genotyping Techniques / standards
  • Haplotypes*
  • Humans
  • Whole Genome Sequencing / methods*
  • Whole Genome Sequencing / standards