Small insertions and deletions (INDELs) in human genomes

doi:10.1093/hmg/ddq400

Review

. 2010 Oct 15;19(R2):R131-6.

doi: 10.1093/hmg/ddq400. Epub 2010 Sep 21.

Small insertions and deletions (INDELs) in human genomes

Julienne M Mullaney¹, Ryan E Mills, W Stephen Pittard, Scott E Devine

Affiliations

PMID: 20858594
PMCID: PMC2953750
DOI: 10.1093/hmg/ddq400

Review

Small insertions and deletions (INDELs) in human genomes

Julienne M Mullaney et al. Hum Mol Genet. 2010.

. 2010 Oct 15;19(R2):R131-6.

doi: 10.1093/hmg/ddq400. Epub 2010 Sep 21.

Authors

Julienne M Mullaney¹, Ryan E Mills, W Stephen Pittard, Scott E Devine

Affiliation

¹ Institute for Genome Sciences, University of Maryland School of Medicine, 801 W. Baltimore Street, 615 BioPark II, Baltimore, MD 21201, USA.

PMID: 20858594
PMCID: PMC2953750
DOI: 10.1093/hmg/ddq400

Abstract

In this review, we focus on progress that has been made with detecting small insertions and deletions (INDELs) in human genomes. Over the past decade, several million small INDELs have been discovered in human populations and personal genomes. The amount of genetic variation that is caused by these small INDELs is substantial. The number of INDELs in human genomes is second only to the number of single nucleotide polymorphisms (SNPs), and, in terms of base pairs of variation, INDELs cause similar levels of variation as SNPs. Many of these INDELs map to functionally important sites within human genes, and thus, are likely to influence human traits and diseases. Therefore, small INDEL variation will play a prominent role in personalized medicine.

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References

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[1] Levy S., Sutton G., Ng P.C., Feuk L., Halpern A.L., Walenz B.P., Axelrod N., Huang J., Kirkness E.F., Denisov G., et al. The diploid genome sequence of an individual human. PLoS Biol. 2007;5:e254. doi:10.1371/journal.pbio.0050254. - DOI - PMC - PubMed

[2] Levy S., Sutton G., Ng P.C., Feuk L., Halpern A.L., Walenz B.P., Axelrod N., Huang J., Kirkness E.F., Denisov G., et al. The diploid genome sequence of an individual human. PLoS Biol. 2007;5:e254. doi:10.1371/journal.pbio.0050254. - DOI - PMC - PubMed

[3] Wheeler D.A., Srinivasan M., Egholm M., Shen Y., Chen L., McGuire A., He W., Chen Y., Makhijani V., Roth G.T., et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008;452:872–876. doi:10.1038/nature06884. - DOI - PubMed

[4] Wheeler D.A., Srinivasan M., Egholm M., Shen Y., Chen L., McGuire A., He W., Chen Y., Makhijani V., Roth G.T., et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008;452:872–876. doi:10.1038/nature06884. - DOI - PubMed

[5] Wang J., Wang W., Li R., Li Y., Tian G., Goodman L., Fan W., Zhang J., Li J., Zhang J., et al. The diploid genome sequence of an Asian individual. Nature. 2008;456:60–65. doi:10.1038/nature07484. - DOI - PMC - PubMed

[6] Wang J., Wang W., Li R., Li Y., Tian G., Goodman L., Fan W., Zhang J., Li J., Zhang J., et al. The diploid genome sequence of an Asian individual. Nature. 2008;456:60–65. doi:10.1038/nature07484. - DOI - PMC - PubMed

[7] Bentley D.R., Balasubramanian S., Swerdlow H.P., Smith G.P., Milton J., Brown C.G., Hall K.P., Evers D.J., Barnes C.L., Bignell H.R., et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature. 2008;456:53–59. doi:10.1038/nature07517. - DOI - PMC - PubMed

[8] Bentley D.R., Balasubramanian S., Swerdlow H.P., Smith G.P., Milton J., Brown C.G., Hall K.P., Evers D.J., Barnes C.L., Bignell H.R., et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature. 2008;456:53–59. doi:10.1038/nature07517. - DOI - PMC - PubMed

[9] Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature. 2008;456:66–72. doi:10.1038/nature07485. - DOI - PMC - PubMed

[10] Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature. 2008;456:66–72. doi:10.1038/nature07485. - DOI - PMC - PubMed

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Small insertions and deletions (INDELs) in human genomes

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Small insertions and deletions (INDELs) in human genomes

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