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Advances in the discovery and analyses of human tandem repeats.

ABSTRACT: Long-read sequencing platforms provide unparalleled access to the structure and composition of all classes of tandemly repeated DNA from STRs to satellite arrays. This review summarizes our current understanding of their organization within the human genome, their importance with respect to disease, as well as the advances and challenges in understanding their genetic diversity and functional effects. Novel computational methods are being developed to visualize and associate these complex patterns of human variation with disease, expression, and epigenetic differences. We predict accurate characterization of this repeat-rich form of human variation will become increasingly relevant to both basic and clinical human genetics.

SUBMITTER: Chaisson MJP

PROVIDER: S-EPMC10806765 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature

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Advances in the discovery and analyses of human tandem repeats.

Chaisson Mark J P MJP Sulovari Arvis A Valdmanis Paul N PN Miller Danny E DE Eichler Evan E EE

Emerging topics in life sciences 20231201 3

Long-read sequencing platforms provide unparalleled access to the structure and composition of all classes of tandemly repeated DNA from STRs to satellite arrays. This review summarizes our current understanding of their organization within the human genome, their importance with respect to disease, as well as the advances and challenges in understanding their genetic diversity and functional effects. Novel computational methods are being developed to visualize and associate these complex patter ...[more]

PMID: 37905568

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