A team of scientists has made a major breakthrough in human genome sequencing, producing the most complete and accurate look at the human genome to date. The researchers assembled near-complete genomes from 65 individuals representing various world populations, advancing our understanding of complex genetic structural variation.
Genome sequencing involves breaking down DNA into smaller fragments, determining their sequence, and piecing them back together to reconstruct the complete genome. Structural variations, such as deletions, inversions, and duplications, can significantly affect gene function or expression.
The team’s work marks a major milestone in genetics research, enabling scientists to fully sequence, assemble, and analyze many complete human genomes. This achievement improves our ability to study human health across all populations, leading to more inclusive and precise genomic medicine.
The researchers identified over 175,000 sequence-resolved events of structural variation per individual, with some regions showing up to 26,115 variations. They also analyzed the major histocompatibility complex, centromere variations, and survival motor neuron genes, gaining new insights into disease mechanisms and potential therapeutic targets.
This work has significant implications for personalized medicine, allowing researchers to investigate how genetic variations contribute to phenotypes or diseases. The team’s findings are published in the scientific journal Nature and were supported by funding from the National Institutes of Health.
The breakthrough is attributed to advancements in sequencing technologies and analytical algorithms, as well as larger collections of more complete and diverse genomes. This study demonstrates the power of collaborative research and highlights the importance of investing in genomics research for improving human health outcomes.
Source: https://news.clemson.edu/study-produces-most-complete-look-at-the-human-genome-especially-in-regions-previously-thought-too-complex-to-resolve