Haplotype Inference

Methods Mol Biol. 2017:1666:469-484. doi: 10.1007/978-1-4939-7274-6_23.

Abstract

Haplotypes, as they specify linkage patterns between individual nucleotide variants, confer critical information for understanding the genetics of human diseases. However, haplotype information is not directly obtainable from high-throughput genotyping platforms. In this chapter, we introduce four representative methods to reconstruct haplotypes from unphased genotype data, two of them are for unrelated individuals and the other two are for families.

Keywords: FASTPHASE; Genotype; Haplotype; Linkage disequilibrium; MACH; Mendelian law; Merlin; PedPhase 3.0; Pedigree; Population.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Female
  • Genetic Predisposition to Disease
  • Genetics, Population / methods
  • Genotype
  • Genotyping Techniques / methods
  • Haplotypes*
  • Humans
  • Linkage Disequilibrium
  • Male
  • Pedigree*
  • Software*