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The complete sequence of a human genome
- Source :
- Science (New York, N.Y.), vol 376, iss 6588
- Publication Year :
- 2022
- Publisher :
- American Association for the Advancement of Science (AAAS), 2022.
-
Abstract
- Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium presents a complete 3.055 billion–base pair sequence of a human genome, T2T-CHM13, that includes gapless assemblies for all chromosomes except Y, corrects errors in the prior references, and introduces nearly 200 million base pairs of sequence containing 1956 gene predictions, 99 of which are predicted to be protein coding. The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies.
- Subjects :
- Chromosomes, Artificial, Bacterial
Genome
Multidisciplinary
General Science & Technology
Genome, Human
1.1 Normal biological development and functioning
Human Genome
Bacterial
DNA
Sequence Analysis, DNA
Chromosomes
Cell Line
Underpinning research
Reference Values
Artificial
Human Genome Project
Genetics
Chromosomes, Human
Humans
Generic health relevance
Sequence Analysis
Human
Subjects
Details
- ISSN :
- 10959203 and 00368075
- Volume :
- 376
- Database :
- OpenAIRE
- Journal :
- Science
- Accession number :
- edsair.doi.dedup.....57a90349d97678f40cdb370a46304d2d