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Updated: Jun 19, 2026

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome

Published on: September 13, 2024

Triplet repeat length bias and variation in the human transcriptome.

Michael Molla¹, Arthur Delcher, Shamil Sunyaev

¹Department of Biomedical Engineering and Center for Advanced Biotechnology, Boston University, Boston, MA 02215, USA. molla@bu.edu

Proceedings of the National Academy of Sciences of the United States of America

|October 7, 2009

Summary

Short tandem repeats (STRs) are key DNA variations. This study catalogs triplet repeats in the human genome, finding long repeats are highly polymorphic, unlike short ones, with implications for disease risk and personalized medicine.

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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

Area of Science:

Genomics
Molecular Biology
Human Genetics

Background:

Short tandem repeats (STRs) are significant DNA polymorphisms with broad applications.
Length variations in trinucleotide (triplet) repeats are linked to diseases like Huntington's disease.

Purpose of the Study:

To catalog all triplet repeats within genic regions of the human genome.
To analyze repeat-length polymorphisms (RLPs) in human genomes and compare human-chimpanzee divergence.
To investigate the polymorphism rates of short and long repeats in human DNA.

Main Methods:

Cataloging triplet repeats in the reference human genome.
Surveying repeat-length polymorphisms (RLPs) across multiple human genomes.
Comparing human RLPs with chimpanzee divergence data.

Main Results:

A bias in noncoding DNA repeat lengths was observed.
Short repeats exhibit low polymorphism rates in both exons and introns.
Long repeats are highly polymorphic and often multiallelic, with frequent differences from chimpanzee sequences.
Expansion and contraction rates of long repeats are high and not clearly influenced by natural selection.

Conclusions:

A comprehensive catalog of human triplet repeats provides a foundation for cost-effective whole-genome assays.
These assays could complement SNP arrays for disease risk assessment and personalized medicine.
Understanding repeat polymorphism is crucial for genomic strategies in disease prediction and therapeutic guidance.