State of Completion
- The study was unable to sequence all of the DNA present in human cells. Only euchromatic sections of the genome, which make up 92.1% of the human genome, were sequenced. The effort did not include the sequencing of the additional heterochromatic areas, which are located in centromeres and telomeres.
- In April 2003, the Human Genome Project (HGP) was deemed complete. The human genome’s first draft became accessible in June 2000, and by February 2001, a working draft had been finished and made public. On April 14, 2003, the human genome’s final sequencing and mapping took place.
- A major quality assessment of the human genome sequence was published on May 27, 2004, and it showed that over 92% of the sampling exceeded 99.99% accuracy, which was within the intended goal. This was even though it was reported to cover 99% of the euchromatic human genome with 99.99% accuracy.
- Although the Genome Reference Consortium (GRC) published a more accurate version of the human genome in March 2009, there were still more than 300 gaps; by 2015, just 160 gaps remained.
- Although the GRC reported 79 “unresolved” gaps in May 2020, making up as much as 5% of the human genome, months later, the use of new long-range sequencing methods and a cell line generated from hydatidiform moles, in which both copies of each chromosome are the same, resulting in the first telomere-to-telomere, the truly complete sequence of a human chromosome, the X chromosome Similar to this, a few months later a complete end-to-end sequencing of human autosomal chromosome 8 was discovered.
- According to a report from 2021, all but five gaps in the repetitive portions of ribosomal DNA had been filled in by the Telomere-to-Telomere (T2T) consortium.
- Those gaps were likewise filled many months later. The Y chromosome, which makes the embryo masculine, is missing from the cell line that served as the source for the DNA tested, therefore the whole sequence was missing it. About 0.3% of the complete sequence had difficulty being checked for quality, making it possible that there were faults there that needed to be confirmed.
- The official publication of the entire non-Y chromosome sequence in 2022 gave a view of much of the 8% of the genome left out by the HGP.
Human Genome Project
Human Genome Project was the world’s largest collaborative biological project that gave us the ability to examine the full genetic manual for creating a human being in nature. HGP was international scientific research that mainly aims to determine the base pairs that make human DNA, as well as the identification, mapping, and sequencing of every gene in the human genome, both physically and functionally. The entire 3.3 billion base pair human genome was sequenced as part of a project that was successfully finished in 2003.
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