Innovations in Biotechnology and Medical Sciences

Understanding a Human Pangenome Map


From UPSC perspective, the following things are important :

Prelims level : Human Pangenome Map

Mains level : Genetic studies


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.

What is Pangenome Map?

  • 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.

Importance of Pangenome Map

  • 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.

Implications for Indian Genomes

  • 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.


Key Terminologies

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.


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