Open questions: How many genes do we have?

doi:10.1186/s12915-018-0564-x

. 2018 Aug 20;16(1):94.

doi: 10.1186/s12915-018-0564-x.

Open questions: How many genes do we have?

Steven L Salzberg¹

Affiliations

Affiliation

¹ Departments of Biomedical Engineering, Computer Science, and Biostatistics, Center for Computational Biology, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Welch Medical Library, Rm. 107, 1900 E. Monument St, Baltimore, MD, 21205, USA. salzberg@jhu.edu.

PMID: 30124169
PMCID: PMC6100717
DOI: 10.1186/s12915-018-0564-x

Open questions: How many genes do we have?

Steven L Salzberg. BMC Biol. 2018.

. 2018 Aug 20;16(1):94.

doi: 10.1186/s12915-018-0564-x.

Author

Steven L Salzberg¹

Affiliation

¹ Departments of Biomedical Engineering, Computer Science, and Biostatistics, Center for Computational Biology, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Welch Medical Library, Rm. 107, 1900 E. Monument St, Baltimore, MD, 21205, USA. salzberg@jhu.edu.

PMID: 30124169
PMCID: PMC6100717
DOI: 10.1186/s12915-018-0564-x

Abstract

Seventeen years after the initial publicationx of the human genome, we still haven't found all of our genes. The answer turns out to be more complex than anyone had imagined when the Human Genome Project began.

PubMed Disclaimer

Conflict of interest statement

Competing interests

The author declares that he has no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Cited by

Population-enriched innate immune variants may identify candidate gene targets at the intersection of cancer and cardio-metabolic disease.
Yeyeodu S, Hanafi D, Webb K, Laurie NA, Kimbro KS. Yeyeodu S, et al. Front Endocrinol (Lausanne). 2024 Mar 21;14:1286979. doi: 10.3389/fendo.2023.1286979. eCollection 2023. Front Endocrinol (Lausanne). 2024. PMID: 38577257 Free PMC article. Review.
Data-Driven Molecular Typing: A New Frontier in Esophageal Cancer Management.
Du Y, Gu B, Shi L, She Y, Zhao Q, Gao S. Du Y, et al. Cancer Med. 2025 Mar;14(5):e70730. doi: 10.1002/cam4.70730. Cancer Med. 2025. PMID: 40018789 Free PMC article. Review.
Mitochondria - the CEO of the cell.
Lee-Glover LP, Picard M, Shutt TE. Lee-Glover LP, et al. J Cell Sci. 2025 May 1;138(9):jcs263403. doi: 10.1242/jcs.263403. Epub 2025 May 1. J Cell Sci. 2025. PMID: 40310473 Review.
The Role of Long Noncoding RNAs in Cardiomyocyte Proliferation and Heart Regeneration After Myocardial Infarction: A Systematic Review.
Dalil D, Bahanesteh A, Rezaei M, Afzali A, Vanaki A, Varamini A. Dalil D, et al. Cell Transplant. 2024 Jan-Dec;33:9636897241266725. doi: 10.1177/09636897241266725. Cell Transplant. 2024. PMID: 39126321 Free PMC article.
Structure-guided isoform identification for the human transcriptome.
Sommer MJ, Cha S, Varabyou A, Rincon N, Park S, Minkin I, Pertea M, Steinegger M, Salzberg SL. Sommer MJ, et al. Elife. 2022 Dec 15;11:e82556. doi: 10.7554/eLife.82556. Elife. 2022. PMID: 36519529 Free PMC article.

See all "Cited by" articles

References

1. Understanding our genetic inheritance: the U.S. Human Genome Project, the first five years 1990. https://www.genome.gov/10001477/human-genome-projects-fiveyear-plan-1991.... Accessed 20 July 2018.
1. International Human Genome Sequencing Consortium Initial sequencing and analysis of the human genome. Nature. 2001;409(6822):860–921. doi: 10.1038/35057062. - DOI - PubMed
1. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, et al. The sequence of the human genome. Science. 2001;291(5507):1304–1351. doi: 10.1126/science.1058040. - DOI - PubMed
1. International Human Genome Sequencing Consortium Finishing the euchromatic sequence of the human genome. Nature. 2004;431(7011):931–945. doi: 10.1038/nature03001. - DOI - PubMed
1. Mortazavi A, Williams BA, McCue K, Schaeffer L, Wold B. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods. 2008;5(7):621–628. doi: 10.1038/nmeth.1226. - DOI - PubMed

Publication types

Actions

MeSH terms

Actions
Actions
Actions

Grants and funding

R01 HG006677/HG/NHGRI NIH HHS/United States

LinkOut - more resources

Full Text Sources
Other Literature Sources
- The Lens - Patent Citations Database
- scite Smart Citations
Medical
- MedlinePlus Health Information

[1] Understanding our genetic inheritance: the U.S. Human Genome Project, the first five years 1990. https://www.genome.gov/10001477/human-genome-projects-fiveyear-plan-1991.... Accessed 20 July 2018.

[2] Understanding our genetic inheritance: the U.S. Human Genome Project, the first five years 1990. https://www.genome.gov/10001477/human-genome-projects-fiveyear-plan-1991.... Accessed 20 July 2018.

[3] International Human Genome Sequencing Consortium Initial sequencing and analysis of the human genome. Nature. 2001;409(6822):860–921. doi: 10.1038/35057062. - DOI - PubMed

[4] International Human Genome Sequencing Consortium Initial sequencing and analysis of the human genome. Nature. 2001;409(6822):860–921. doi: 10.1038/35057062. - DOI - PubMed

[5] Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, et al. The sequence of the human genome. Science. 2001;291(5507):1304–1351. doi: 10.1126/science.1058040. - DOI - PubMed

[6] Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, et al. The sequence of the human genome. Science. 2001;291(5507):1304–1351. doi: 10.1126/science.1058040. - DOI - PubMed

[7] International Human Genome Sequencing Consortium Finishing the euchromatic sequence of the human genome. Nature. 2004;431(7011):931–945. doi: 10.1038/nature03001. - DOI - PubMed

[8] International Human Genome Sequencing Consortium Finishing the euchromatic sequence of the human genome. Nature. 2004;431(7011):931–945. doi: 10.1038/nature03001. - DOI - PubMed

[9] Mortazavi A, Williams BA, McCue K, Schaeffer L, Wold B. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods. 2008;5(7):621–628. doi: 10.1038/nmeth.1226. - DOI - PubMed

[10] Mortazavi A, Williams BA, McCue K, Schaeffer L, Wold B. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods. 2008;5(7):621–628. doi: 10.1038/nmeth.1226. - DOI - 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

Open questions: How many genes do we have?

Affiliation

Open questions: How many genes do we have?

Author

Affiliation

Abstract

Conflict of interest statement

Competing interests

Publisher’s Note

Similar articles

Cited by

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical