The Holy Grail: Finding the Genetic Bases of Phenotypic Characters

Abstract

A main goal in human genomics is to compare the genetic sequences of different individuals to identify chromosomal regions where genetic variants are shared. Using this information, researchers will be able to discover how genetic differences impact on the expression of different phenotypic characters such as disease susceptibility or drug resistance. One of the main sources of genetic variation is represented by Single Nucleotide Polymorphisms (SNPs) possessed by individuals in a population and compiled into haplotypes. Haplotypes allow to highlight the combined effect of multiple SNPs on the phenotypic character and greatly increase the significance of the predicted associations. Since each person possesses two haplotypes for most regions of the genome but they cannot be directly extracted by common wet-lab experiments, the inference of haplotype pairs from “raw” genetic data (genotypes) is a key computational problem in this area.