Researchers at the National Human Genome Research Institute (NHGRI) have created the first DNA sequence of a human chromosome. With these results, it is now believed that generating a precise end-to-end of a human chromosome is possible.
This breakthrough shines a new light in genomic medicine research, opening up more opportunities for scientists to deepen understanding of genetic diseases and provide newer treatment approaches for these diseases. This feat took nearly two decades of testing and improvements to produce the most accurate reference sequence of the human genome ever produced.
The researchers chose the X chromosome of all the 24 human chromosomes in the body because the X chromosome is associated with several diseases including hemophilia and muscular dystrophy. Women inherit two unidentical X chromosomes from their parents – one from their father, the other from their mother. Because of the dissimilarity in structure of both X chromosomes, the researchers did not create the chromosome from human cells, but with a special cell type that contains two identical X chromosomes, making analysis much simpler and better.
The researchers used new technologies that helped them sequence long segments of DNA without disintegrating them into small pieces.
Read more here – https://www.genome.gov/news/news-release/NHGRI-researchers-generate-complete-human-x-chromosome-sequence
