A breakthrough study published in Nature has successfully decoded complex DNA segments involved in diseases such as diabetes and spinal muscular atrophy. Researchers sequenced the data from 65 human samples spanning five continents and 28 population groups, using a combination of two technologies to overcome previous technological hurdles.
The team was able to solve for 92% of missing genome data, mapping genomic variation across ancestries with unprecedented accuracy. This study has significant implications for precision medicine, allowing doctors to deliver more tailored genetic diagnoses and treatments.
Key findings include the decoding of the major histocompatibility complex, which encodes the machinery for antigen presentation, as well as the SMN1 and SMN2 genes associated with spinal muscular atrophy. The researchers also sequenced over 1,200 centromeres, a specialized region of chromosomes essential to cell division.
The study’s diversity is key to its significance, revealing that African ancestry samples harbor the most structural variance. This finding supports the idea that this population holds the deepest reservoir of human genetic diversity. However, limitations in sample size mean further analysis of many more global populations is necessary to fully represent the human genetic world.
Source: https://www.statnews.com/2025/07/23/landmark-study-presents-most-complete-human-genome-sequence