Advances in the discovery and analyses of human tandem repeats

Author:

Chaisson Mark J.P.12,Sulovari Arvis3,Valdmanis Paul N.456,Miller Danny E.678,Eichler Evan E.59ORCID

Affiliation:

1. 1Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, U.S.A.

2. 2The Genomic and Epigenomic Regulation Program, USC Norris Cancer Center, University of Southern California, Los Angeles, CA 90089, U.S.A.

3. 3Computational Biology, Cajal Neuroscience Inc, Seattle, WA 98102, U.S.A.

4. 4Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, U.S.A.

5. 5Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, U.S.A.

6. 6Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, U.S.A.

7. 7Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, U.S.A.

8. 8Department of Pediatrics, University of Washington, Seattle, WA 98195, U.S.A.

9. 9Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, U.S.A.

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.

Publisher

Portland Press Ltd.

Subject

General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology

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