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Pangenome Reference Map

Pangenome Reference Map:

A new study has been published in the Nature journal describing a Pangenome Reference Map, built using genomes from 47 anonymous individuals (19 men and 28 women), mainly from Africa but also from the Caribbean, Americas, East Asia, and Europe.

  • A reference genome or reference map is like a standard map that scientists use when they sequence and study new genomes.
  • It serves as a guide to compare and understand the differences between the newly sequenced genome and the reference genome.
  • The first reference genome created in 2001 was a significant scientific achievement.
  • It helped scientists discover disease-related genes, understand genetic aspects of diseases like cancer, and develop new diagnostic tests.
  • However, it had limitations and wasn’t perfect
  • The pangenome, unlike the previous linear reference genome, is represented as a graph.
  • Each chromosome in the pangenome can be imagined as a bamboo stem with nodes.
  • These nodes represent stretches of sequences that are similar among all 47 individuals. The internodes between the nodes vary in length and represent genetic variations among individuals from different ancestries.
  • To create complete and continuous maps of the chromosomes in the pangenome project, researchers used a technology called long-read DNA sequencing, creating complete and continuous chromosome maps by producing accurate, long DNA strands.