Central Idea

A study published in the Nature journal presents a pangenome reference map built using genomes from 47 anonymous individuals.
The individuals included in the study are from various regions, including Africa, the Caribbean, Americas, East Asia, and Europe.

Understanding Genomes and Reference Genomes

The genome refers to the collection of all genes and regions between genes found in our chromosomes.
Each chromosome is composed of millions of nucleotides (A, T, G, and C) arranged in different combinations.
Genome sequencing helps understand genetic diversity and susceptibility to diseases.
A reference genome is a map used to compare newly sequenced genomes and identify differences.
The first reference genome, created in 2001, had limitations and did not represent human diversity accurately.

The new study focuses on building a pangenome map, which is a graph representing genetic diversity among individuals.
Pangenome maps use long-read DNA sequencing technologies to assemble sequences accurately.

Although humans are more than 99% similar in their DNA, there is still a 0.4% difference between individuals.
A complete and error-free pangenome map helps understand genetic differences and human diversity.
It aids in identifying genetic variants linked to health conditions, such as the discovery of 150 new genes associated with autism.
The current pangenome map lacks representation from certain populations, including Indians.

The pangenome map, despite not including Indian genomes, will assist in mapping Indian genomes against existing reference genomes.
Future pangenome maps with Indian genome data will provide insights into disease prevalence, rare gene discovery, diagnostic methods, and drug development.

Genome: The complete set of genes and regions between genes in an organism.

Reference Genome: A map used to compare newly sequenced genomes and identify differences.

Pangenome: A graph representing genetic diversity among individuals rather than a linear sequence.

Nucleotides: The building blocks of DNA (A, T, G, C).

Long-Read DNA Sequencing: A technology that produces longer and contiguous DNA strands for more accurate sequencing.