Science & Tech

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.

Recognising Genomes and Reference Genomes

  • 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.

What exactly is a Pangenome Map?

  • 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.

Importance of Pangenome Map

  • 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.

Consequences for Indian Genomes

  • 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.
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