The complete sequence of a human genome

doi:10.1126/science.abj6987

. 2022 Apr;376(6588):44-53.

doi: 10.1126/science.abj6987. Epub 2022 Mar 31.

The complete sequence of a human genome

Sergey Nurk^#¹, Sergey Koren^#¹, Arang Rhie^#¹, Mikko Rautiainen^#¹, Andrey V Bzikadze², Alla Mikheenko³, Mitchell R Vollger⁴, Nicolas Altemose⁵, Lev Uralsky^{6

7}, Ariel Gershman⁸, Sergey Aganezov⁹, Savannah J Hoyt¹⁰, Mark Diekhans¹¹, Glennis A Logsdon⁴, Michael Alonge⁹, Stylianos E Antonarakis¹², Matthew Borchers¹³, Gerard G Bouffard¹⁴, Shelise Y Brooks¹⁴, Gina V Caldas¹⁵, Nae-Chyun Chen⁹, Haoyu Cheng^{16

17}, Chen-Shan Chin¹⁸, William Chow¹⁹, Leonardo G de Lima¹³, Philip C Dishuck⁴, Richard Durbin^{19

20}, Tatiana Dvorkina³, Ian T Fiddes²¹, Giulio Formenti^{22

23}, Robert S Fulton²⁴, Arkarachai Fungtammasan¹⁸, Erik Garrison^{11

25}, Patrick G S Grady¹⁰, Tina A Graves-Lindsay²⁶, Ira M Hall²⁷, Nancy F Hansen²⁸, Gabrielle A Hartley¹⁰, Marina Haukness¹¹, Kerstin Howe¹⁹, Michael W Hunkapiller²⁹, Chirag Jain^{1

30}, Miten Jain¹¹, Erich D Jarvis^{22

23}, Peter Kerpedjiev³¹, Melanie Kirsche⁹, Mikhail Kolmogorov³², Jonas Korlach²⁹, Milinn Kremitzki²⁶, Heng Li^{16

17}, Valerie V Maduro³³, Tobias Marschall³⁴, Ann M McCartney¹, Jennifer McDaniel³⁵, Danny E Miller^{4

36}, James C Mullikin^{14

28}, Eugene W Myers³⁷, Nathan D Olson³⁵, Benedict Paten¹¹, Paul Peluso²⁹, Pavel A Pevzner³², David Porubsky⁴, Tamara Potapova¹³, Evgeny I Rogaev^{6

7

38

39}, Jeffrey A Rosenfeld⁴⁰, Steven L Salzberg^{9

41}, Valerie A Schneider⁴², Fritz J Sedlazeck⁴³, Kishwar Shafin¹¹, Colin J Shew⁴⁴, Alaina Shumate⁴¹, Ying Sims¹⁹, Arian F A Smit⁴⁵, Daniela C Soto⁴⁴, Ivan Sović^{29

46}, Jessica M Storer⁴⁵, Aaron Streets^{5

47}, Beth A Sullivan⁴⁸, Françoise Thibaud-Nissen⁴², James Torrance¹⁹, Justin Wagner³⁵, Brian P Walenz¹, Aaron Wenger²⁹, Jonathan M D Wood¹⁹, Chunlin Xiao⁴², Stephanie M Yan⁴⁹, Alice C Young¹⁴, Samantha Zarate⁹, Urvashi Surti⁵⁰, Rajiv C McCoy⁴⁹, Megan Y Dennis⁴⁴, Ivan A Alexandrov^{3

7

51}, Jennifer L Gerton^{13

52}, Rachel J O'Neill¹⁰, Winston Timp^{8

41}, Justin M Zook³⁵, Michael C Schatz^{9

49}, Evan E Eichler^{4

53}, Karen H Miga^{11

54}, Adam M Phillippy¹

Affiliations

¹ Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
² Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, La Jolla, CA, USA.
³ Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
⁴ Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
⁵ Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.
⁶ Sirius University of Science and Technology, Sochi, Russia.
⁷ Vavilov Institute of General Genetics, Moscow, Russia.
⁸ Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
⁹ Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
¹⁰ Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
¹¹ UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
¹² University of Geneva Medical School, Geneva, Switzerland.
¹³ Stowers Institute for Medical Research, Kansas City, MO, USA.
¹⁴ NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
¹⁵ Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
¹⁶ Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
¹⁷ Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
¹⁸ DNAnexus, Mountain View, CA, USA.
¹⁹ Wellcome Sanger Institute, Cambridge, UK.
²⁰ Department of Genetics, University of Cambridge, Cambridge, UK.
²¹ Inscripta, Boulder, CO, USA.
²² Laboratory of Neurogenetics of Language and The Vertebrate Genome Lab, The Rockefeller University, New York, NY, USA.
²³ Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
²⁴ Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
²⁵ University of Tennessee Health Science Center, Memphis, TN, USA.
²⁶ McDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, USA.
²⁷ Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
²⁸ Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
²⁹ Pacific Biosciences, Menlo Park, CA, USA.
³⁰ Department of Computational and Data Sciences, Indian Institute of Science, Bangalore KA, India.
³¹ Reservoir Genomics LLC, Oakland, CA, USA.
³² Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA.
³³ Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
³⁴ Heinrich Heine University Düsseldorf, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Düsseldorf, Germany.
³⁵ Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.
³⁶ Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
³⁷ Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.
³⁸ Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA.
³⁹ Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.
⁴⁰ Cancer Institute of New Jersey, New Brunswick, NJ, USA.
⁴¹ Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
⁴² National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
⁴³ Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
⁴⁴ Genome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA.
⁴⁵ Institute for Systems Biology, Seattle, WA, USA.
⁴⁶ Digital BioLogic d.o.o., Ivanić-Grad, Croatia.
⁴⁷ Chan Zuckerberg Biohub, San Francisco, CA, USA.
⁴⁸ Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, USA.
⁴⁹ Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
⁵⁰ Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
⁵¹ Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia.
⁵² Department of Biochemistry and Molecular Biology, University of Kansas Medical School, Kansas City, MO, USA.
⁵³ Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
⁵⁴ Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA.

^# Contributed equally.

PMID: 35357919
PMCID: PMC9186530
DOI: 10.1126/science.abj6987

The complete sequence of a human genome

Sergey Nurk et al. Science. 2022 Apr.

. 2022 Apr;376(6588):44-53.

doi: 10.1126/science.abj6987. Epub 2022 Mar 31.

Authors

Affiliations

¹ Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
² Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, La Jolla, CA, USA.
³ Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
⁴ Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
⁵ Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.
⁶ Sirius University of Science and Technology, Sochi, Russia.
⁷ Vavilov Institute of General Genetics, Moscow, Russia.
⁸ Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
⁹ Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
¹⁰ Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
¹¹ UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
¹² University of Geneva Medical School, Geneva, Switzerland.
¹³ Stowers Institute for Medical Research, Kansas City, MO, USA.
¹⁴ NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
¹⁵ Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
¹⁶ Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
¹⁷ Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
¹⁸ DNAnexus, Mountain View, CA, USA.
¹⁹ Wellcome Sanger Institute, Cambridge, UK.
²⁰ Department of Genetics, University of Cambridge, Cambridge, UK.
²¹ Inscripta, Boulder, CO, USA.
²² Laboratory of Neurogenetics of Language and The Vertebrate Genome Lab, The Rockefeller University, New York, NY, USA.
²³ Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
²⁴ Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
²⁵ University of Tennessee Health Science Center, Memphis, TN, USA.
²⁶ McDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, USA.
²⁷ Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
²⁸ Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
²⁹ Pacific Biosciences, Menlo Park, CA, USA.
³⁰ Department of Computational and Data Sciences, Indian Institute of Science, Bangalore KA, India.
³¹ Reservoir Genomics LLC, Oakland, CA, USA.
³² Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA.
³³ Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
³⁴ Heinrich Heine University Düsseldorf, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Düsseldorf, Germany.
³⁵ Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.
³⁶ Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
³⁷ Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.
³⁸ Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA.
³⁹ Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.
⁴⁰ Cancer Institute of New Jersey, New Brunswick, NJ, USA.
⁴¹ Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
⁴² National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
⁴³ Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
⁴⁴ Genome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA.
⁴⁵ Institute for Systems Biology, Seattle, WA, USA.
⁴⁶ Digital BioLogic d.o.o., Ivanić-Grad, Croatia.
⁴⁷ Chan Zuckerberg Biohub, San Francisco, CA, USA.
⁴⁸ Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, USA.
⁴⁹ Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
⁵⁰ Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
⁵¹ Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia.
⁵² Department of Biochemistry and Molecular Biology, University of Kansas Medical School, Kansas City, MO, USA.
⁵³ Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
⁵⁴ Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA.

^# Contributed equally.

PMID: 35357919
PMCID: PMC9186530
DOI: 10.1126/science.abj6987

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.

PubMed Disclaimer

Figures

**Fig. 1.. Summary of the complete T2T-CHM13 human genome assembly.**
(A) Ideogram of T2T-CHM13v1.1 assembly features. Bottom to top: gaps/issues in GRCh38 fixed by CHM13 overlaid with the density of genes exclusive to CHM13 in red; segmental duplications (SDs) (42) and centromeric satellites (CenSat) (30); and CHM13 ancestry predictions (EUR, European; SAS, South Asian; EAS, East Asian; AMR, Ad Mixed American). (B) Additional (non-syntenic) bases in the CHM13 assembly relative to GRCh38 per chromosome, with the acrocentrics highlighted in black, and (C) by sequence type (note that the CenSat and SD annotations overlap). (D) Total non-gap bases in UCSC reference genome releases dating back to September 2000 (hg4) and ending with T2T-CHM13 in 2021.

**Fig. 2.. High-resolution assembly string graph of the CHM13 genome.**
(A) Bandage (60) visualization, where nodes represent unambiguously assembled sequences scaled by length, and edges correspond to the overlaps between node sequences. Each chromosome is both colored and numbered on the short (p) arm. Long (q) arms are labeled where unclear. The five acrocentric chromosomes (bottom right) are connected due to similarity between their short arms, and the rDNA arrays form five dense tangles due to their high copy number. The graph is partially fragmented due to HiFi coverage dropout surrounding GA-rich sequence (black triangles). Centromeric satellites (30) are the source of most ambiguity in the graph (gray highlights). (B) The ONT-assisted graph traversal for the 2p11 locus is given by numerical order. Based on low depth-of-coverage, the unlabeled light gray node represents an artifact or heterozygous variant and was not used. (C) The multi-megabase tandem HSat3 duplication (9qh+) at 9q12 requires two traversals of the large loop structure (the size of the loop is exaggerated because graph edges are of constant size). Nodes used by the first traversal are in dark purple and the second traversal in light purple. Nodes used by both traversals typically have twice the sequencing coverage. (D) Enlargement of the distal short arms of the acrocentrics, showing the colored graph walks and edges between highly similar sequences in the distal junctions (DJs) adjacent to the rDNA arrays.

**Fig. 3.. Sequencing coverage and assembly validation.**
(A) Uniform whole-genome coverage of mapped HiFi and ONT reads is shown with primary alignments in light shades and marker-assisted alignments overlaid in dark shades. Large HSat arrays (30) are noted by triangles, with inset regions are marked by arrowheads and the location of the rDNA arrays marked with asterisks. Regions with low unique marker frequency (light green) correspond to drops in unique marker density, but are recovered by the lower-confidence primary alignments. Annotated assembly issues are compared for T2T-CHM13 and GRCh38. (**B–D**) Enlargements corresponding to regions of the genome featured in Fig. 2. Uniform coverage changes within certain satellites are reproducible and likely caused by sequencing bias. Identified heterozygous variants and assembly issues are marked below and typically correspond with low coverage of the primary allele (black) and elevated coverage of the secondary allele (red). % microsatellite repeats for every 128 bp window is shown at the bottom.

**Fig. 4.. Short arms of the acrocentric chromosomes.**
Each short arm is shown along with annotated genes, percent of methylated CpGs (29), and a color-coded satellite repeat annotation (30). The rDNA arrays are represented by a directional arrow and copy number due to their high self-similarity, which prohibits ONT mapping. Percent identity heatmaps versus the other four arms were computed in 10 kbp windows and smoothed over 100 kbp intervals. Each position shows the maximum identity of that window to any window in the other chromosome. The distal short arms include conserved satellite structure and inverted repeats (thin arrows), while the proximal short arms show a diversity of structures. The proximal short arms of Chromosomes 13, 14, and 21 share a segmentally duplicated core, including small alpha satellite HOR arrays and a central, highly methylated, SST1 array (thin arrows with teal block). Yellow triangles indicate hypomethylated centromeric dip regions (CDRs), marking the sites of kinetochore assembly (29).

**Fig. 5.. Resolved FRG1 paralogs.**
(A) Protein-coding gene *FRG1* and its 23 paralogs in CHM13. Only 9 are found in GRCh38. Genes are drawn larger than their actual size and the “FRG1” prefix is omitted for brevity. All paralogs are found near satellite arrays. Most copies exhibit evidence of expression, including CpG islands present at the 5′ start site with varying degrees of methylation. (B) Reference (gray) and variant (colored) allele coverage is shown for four human HiFi samples mapped to the paralog *FRG1DP*. When mapped to GRCh38, the region shows excessive HiFi coverage and variants, indicating that reads from the missing paralogs are mis-mapped to *FRG1DP* (variants with >80% coverage shown). When mapped to CHM13, HiFi reads show the expected coverage and a typical heterozygous variation pattern for the three non-CHM13 samples (variants >20% coverage shown). These non-reference alleles are also found in other populations from 1KGP ILMN data. (C) Mapped HiFi read coverage for other *FRG1* paralogs, with an extended context shown for Chromosome 20. Coverage of HiFi reads that mapped to *FRG1DP* in GRCh38 are highlighted (dark gray), showing the paralogous copies they originate from (*FRG1BP4–10*, *FRG1GP*, *FRG1GP2*, and *FRG1KP4*). Background coverage is variable for some paralogs, suggesting copy number polymorphism in the population. (D) Methylation and expression profiles suggest transcription of *FRG1DP* in CHM13. In the copy number display (bottom), each length k sequence (k-mer) of the CHM13 assembly is painted with a color representing the copy number of that k-mer sequence in an SGDP sample. The CHM13 and GRCh38 tracks show the copy number of these same k-mers in the respective assemblies. CHM13 copy number resembles all samples from the SGDP, whereas GRCh38 underrepresents the true copy number.

See this image and copyright information in PMC

Comment in

A next-generation human genome sequence.
Church DM. Church DM. Science. 2022 Apr;376(6588):34-35. doi: 10.1126/science.abo5367. Epub 2022 Mar 31. Science. 2022. PMID: 35357937
The final pieces of the human genome.
Attwaters M. Attwaters M. Nat Rev Genet. 2022 Jun;23(6):321. doi: 10.1038/s41576-022-00494-5. Nat Rev Genet. 2022. PMID: 35488041 No abstract available.
The first complete human genome.
Lovell JT, Grimwood J. Lovell JT, et al. Nature. 2022 Jun;606(7914):468-469. doi: 10.1038/d41586-022-01368-w. Nature. 2022. PMID: 35606432 No abstract available.
Digging into the Unknowns of the Human Genome Sequence: The T2T-CHM13 Reference Assembly Release.
Magrinelli F, Mencacci NE. Magrinelli F, et al. Mov Disord. 2022 Nov;37(11):2192. doi: 10.1002/mds.29235. Epub 2022 Sep 29. Mov Disord. 2022. PMID: 36173892 No abstract available.
The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.
Hamza A, El-Sissy C, Yousfi N, Martins PV, Rafat C, Masliah-Planchon J, Frémeaux-Bacchi V, Mesnard L. Hamza A, et al. Eur J Hum Genet. 2023 Jul;31(7):730-732. doi: 10.1038/s41431-023-01350-8. Epub 2023 Apr 10. Eur J Hum Genet. 2023. PMID: 37032353 Free PMC article. No abstract available.

Cited by

Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease.
Horváth V, Garza R, Jönsson ME, Johansson PA, Adami A, Christoforidou G, Karlsson O, Castilla Vallmanya L, Koutounidou S, Gerdes P, Pandiloski N, Douse CH, Jakobsson J. Horváth V, et al. Nat Struct Mol Biol. 2024 Jun 4. doi: 10.1038/s41594-024-01320-8. Online ahead of print. Nat Struct Mol Biol. 2024. PMID: 38834915
Paired CRISPR screening libraries for studying the function of the non-coding genome at scale.
[No authors listed] [No authors listed] Nat Biomed Eng. 2024 May 31. doi: 10.1038/s41551-024-01215-5. Online ahead of print. Nat Biomed Eng. 2024. PMID: 38822173 No abstract available.
Can long-read sequencing tackle the barriers, which the next-generation could not? A review.
Szakállas N, Barták BK, Valcz G, Nagy ZB, Takács I, Molnár B. Szakállas N, et al. Pathol Oncol Res. 2024 May 16;30:1611676. doi: 10.3389/pore.2024.1611676. eCollection 2024. Pathol Oncol Res. 2024. PMID: 38818014 Free PMC article. Review.
LiftoffTools: a toolkit for comparing gene annotations mapped between genome assemblies.
Shumate A, Salzberg S. Shumate A, et al. F1000Res. 2024 Apr 29;11:1230. doi: 10.12688/f1000research.124059.2. eCollection 2022. F1000Res. 2024. PMID: 38817952 Free PMC article.
G-quadruplex propensity in H. neanderthalensis, H. sapiens and Denisovans mitochondrial genomes.
Brázda V, Šislerová L, Cucchiarini A, Mergny JL. Brázda V, et al. NAR Genom Bioinform. 2024 May 30;6(2):lqae060. doi: 10.1093/nargab/lqae060. eCollection 2024 Jun. NAR Genom Bioinform. 2024. PMID: 38817800 Free PMC article.

See all "Cited by" articles

References

1. Schneider VA et al. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res. 27, 849–864 (2017). - PMC - PubMed
1. International Human Genome Sequencing Consortium, Initial sequencing and analysis of the human genome. Nature. 409, 860–921 (2001). - PubMed
1. Venter JC et al. The sequence of the human genome. Science. 291, 1304–1351 (2001). - PubMed
1. Myers EW et al. A whole-genome assembly of Drosophila. Science. 287, 2196–2204 (2000). - PubMed
1. Eichler EE, Clark RA, She X, An assessment of the sequence gaps: unfinished business in a finished human genome. Nat. Rev. Genet 5, 345–354 (2004). - PubMed

Publication types

Actions
Actions
Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Grants and funding

LinkOut - more resources

Full Text Sources
Other Literature Sources
- H1 Connect

[1] Schneider VA et al. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res. 27, 849–864 (2017). - PMC - PubMed

[2] Schneider VA et al. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res. 27, 849–864 (2017). - PMC - PubMed

[3] International Human Genome Sequencing Consortium, Initial sequencing and analysis of the human genome. Nature. 409, 860–921 (2001). - PubMed

[4] International Human Genome Sequencing Consortium, Initial sequencing and analysis of the human genome. Nature. 409, 860–921 (2001). - PubMed

[5] Venter JC et al. The sequence of the human genome. Science. 291, 1304–1351 (2001). - PubMed

[6] Venter JC et al. The sequence of the human genome. Science. 291, 1304–1351 (2001). - PubMed

[7] Myers EW et al. A whole-genome assembly of Drosophila. Science. 287, 2196–2204 (2000). - PubMed

[8] Myers EW et al. A whole-genome assembly of Drosophila. Science. 287, 2196–2204 (2000). - PubMed

[9] Eichler EE, Clark RA, She X, An assessment of the sequence gaps: unfinished business in a finished human genome. Nat. Rev. Genet 5, 345–354 (2004). - PubMed

[10] Eichler EE, Clark RA, She X, An assessment of the sequence gaps: unfinished business in a finished human genome. Nat. Rev. Genet 5, 345–354 (2004). - PubMed

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

The complete sequence of a human genome

Affiliations

The complete sequence of a human genome

Authors

Affiliations

Abstract

Figures

Comment in

Similar articles

Cited by

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Abstract

Figures

Comment in

Similar articles

Cited by

References

Publication types

MeSH terms

Related information

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources