Human genome's resistant areas, long evaded scrutiny, have finally been cracked open for analysis
In groundbreaking studies published in Nature in 2023, researchers have unveiled the human pangenome, a powerful tool that captures the full spectrum of genetic variation found across diverse human populations worldwide. This innovative approach provides a more complete and representative map of human genetic diversity than the traditional single linear reference genome.
The human pangenome is not a linear structure like the traditional reference genome. Instead, it is a graph-like structure that includes alternative sequences present across different individuals. This design captures insertions, deletions, structural variants, and single nucleotide polymorphisms (SNPs) that vary between populations, providing a more accurate representation of global genetic variation.
One of the key benefits of the human pangenome is its ability to overcome bias towards European-origin genomes, as it incorporates DNA sequences from diverse ancestries. This global representation enables the identification of novel genetic variants, including those missed in the traditional human reference genome.
The resource also facilitates better variant calling accuracy across different genomic regions. By identifying "easy regions" for variant calling and better characterizing clinically relevant genetic variants, the human pangenome improves our understanding of population-specific genetic structures, enabling improved disease variant discovery and personalized medicine efforts globally.
The 2023 studies made significant strides in decoding some of the most difficult-to-read stretches, including centromeres, Y chromosomes, and the Major Histocompatibility Complex region. The research is a great example of collaborative work opening up new vistas in genomic science.
The second study, led by Dr Christine Beck, focused on genomic structural variants and analyzed the genomes of 1,019 people from 5 continents and 28 population groups. This study doubled the known amount of structural variants in the human pangenome, with over 167,000 variants found and categorized.
The latest datasets, published in Nature, present the most complete overview of the human genome to date. The new data, including the first complete sequence of a single human genome obtained in 2022, fill in many of the remaining gaps in our understanding of human genetic diversity.
Professor Tobias Marschall, one of the leading researchers, asserts that the research has created a comprehensive and medically relevant resource that can be used by researchers worldwide. This advancement in genomic science is a significant step towards a more complete human pangenome, paving the way for improved genetic research and clinical applications.
The human pangenome offers insights into medical conditions and health-and-wellness by enabling improved disease variant discovery and personalized medicine efforts globally. This comprehensive and medically relevant resource, created through collaborative work in genomic science, includes alternative sequences present across different individuals and captures insertions, deletions, structural variants, and single nucleotide polymorphisms (SNPs) that vary between populations.
