How to Read a Human Pangenome Map

A pangenome reference map was created using genomes from 47 anonymous individuals, according to a study published in the journal Nature.
The participants in the study come from all over the world, including Africa, the Caribbean, the Americas, East Asia, and Europe.

The genome is the collection of all genes and gene regions found in our chromosomes.
Each chromosome is made up of millions of nucleotides (A, T, G, and C) organised in various ways.
Genome sequencing contributes to a better understanding of genetic diversity and disease risk.
A reference genome is a map that is used to compare and discover differences between newly sequenced genomes.
The initial reference genome, published in 2001, had shortcomings and did not correctly represent human variety.

The new study aims to create a pangenome map, which is a graph that represents genetic variation among individuals.
Pangenome maps build sequences precisely using long-read DNA sequencing technology.

Although humans are more than 99% similar in their DNA, there is still a 0.4% difference between individuals.
A full and error-free pangenome map contributes to a better understanding of genetic differences and human diversity.
It aids in the identification of genetic variants connected with health issues, such as the finding of 150 novel genes linked to autism.
Certain populations, especially Indians, are underrepresented on the current pangenome map.

Despite the fact that it does not include Indian genomes, the pangenome map will aid in mapping Indian genomes against existing reference genomes.
Future pangenome maps derived from Indian genomic data will shed light on illness prevalence, rare gene discovery, diagnostic procedures, and therapeutic development.

Source: https://www.thehindu.com/sci-tech/science/explained-understanding-a-human-pangenome-map/article66878568.ece