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Oxford University Press (OUP), Human Molecular Genetics, R2(19), p. R131-R136

DOI: 10.1093/hmg/ddq400

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Small insertions and deletions (INDELs) in human genomes

Journal article published in 2010 by Julienne M. Mullaney, Ryan E. Mills ORCID, W. Stephen Pittard, Scott E. Devine
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.