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Article Writer-   Minakshi  Kumari, MSc. Biotechnology, RCA, Maharana Pratap University of Agriculture and Technology, Udaipur, Rajsthan(India)

Humans possess either two X- Chromosome (Female) or one X and one Y- Chromosome (Male). Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institute of Health (NIH), have produced complete X-chromosome with a lack of some repetitive DNA sequences. In this study, researchers chose a special type of cell, having two identical X-Chromosome. Such a cell provided more DNA for sequencing than a male cell and avoids sequence difference appeared during analyzing it.

Scientists, instead of breaking DNA into small sequences and then sequencing it, they went for a method which generates very long DNA sequences and used newly developed computer programs to assemble it.

“The ability to generate truly complete sequences of chromosomes and genomes is a technical feat that will help us gain a comprehensive understanding of genome function and inform the use of genomic information in medical care”, said Eric Green, M.D., Ph.D., NHGRI director.

Journal Reference:

Miga, K.H., Koren, S., Rhie, A. et al. Telomere-to-telomere assembly of a complete human X chromosome. Nature (2020). https://doi.org/10.1038/s41586-020-2547-7