From UPSC perspective, the following things are important :
Prelims level : Human Pangenome Map
Mains level : Genetic studies
- 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.
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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