On the Polymorphism Information Content (PIC) – A Practical Application for the DNA Sequencing Data

Le résumé fourni par la source

All traits of an organism are associated with the genes. Organisms carry genes all of their lifetimes and pass them to the next generations. In genetics, case-control linkage studies named Genome-wide association studies (GWAS) are conducted to establish an association between specific genes, and any medical conditions. It helps to understand the inheritance of traits. In GWAS, genetic markers help us to specify genes, and deliver the required information. The usefulness of a genetic marker depends on the amount of information it provides, which is calculated based on the heterozygosity it holds. To determine the informativity of genetic marker different measures are used. Polymorphism Information Content (PIC) is one of them. It can measure the strength of heterogeneity of a genetic marker that is associated with a gene. A simulated replica of human genome for 2000 individuals in a case-control setting was used in this study. The 16 genes were randomly selected with different features, and the genotype data were enumerated for demonstrating PIC. PIC values of some genes showed strong relation with the allele frequencies. A symmetric relationship between PIC and allele frequencies were observed for the selected genes. Similar association was also noticed for a gene having huge number of SNPs (1500). Although simulated data, this demonstration is expected to provide a significant practical insight for the introductory genetic researchers to whom the access and handling with the real genotype data is a big challenge.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.