In this era of whole-genome, next-generation sequencing, it is important to have a clear understanding of the concept of “haplotype”. We show here that most of the important regions of the genome can be described in terms of polymorphic frozen blocks (PFB). At each PFB, there are numerous, even hundreds, of alternative ancestral haplotypes. Haplotypes, not genes, can be regarded as the principal unit of inheritance. We illustrate how sequence data can be analysed to reveal and define these ancestral haplotypes.
Part of the book: Next Generation Sequencing