The complete sequence of a human genome

Published

March 31, 2022

Author(s)

Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Jennifer McDaniel, Nathanael David Olson, Justin Wagner, Justin Zook, Evan Eichler, Karen Miga, Adam Phillippy

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.

Citation

Science/AAAS

Volume

376

Issue

6588

Pub Type

Journals

Download Paper

https://doi.org/10.1126/science.abj6987

Local Download

Keywords

human genomics, reference genome, genome assembly

Citation

Nurk, S. , Koren, S. , Rhie, A. , Rautiainen, M. , McDaniel, J. , Olson, N. , Wagner, J. , Zook, J. , Eichler, E. , Miga, K. and Phillippy, A. (2022), The complete sequence of a human genome, Science/AAAS, [online], https://doi.org/10.1126/science.abj6987, https://tsapps.nist.gov/publication/get_pdf.cfm?pub_id=932646 (Accessed October 13, 2024)