Related Experiment Video

Updated: Aug 10, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

22.9K

Analysis of Tandem Repeat Expansions Using Long DNA Reads

Satomi Mitsuhashi1,2, Martin C Frith3,4,5

  • 1Department of Genomic Function and Diversity, Tokyo Medical and Dental University, Tokyo, Japan. satomi.mitsuhashi@marianna-u.ac.jp.

Methods in Molecular Biology (Clifton, N.J.)
|February 13, 2023
PubMed
Summary

Abnormal tandem repeats cause genetic diseases. Long DNA sequencing reads, like those from Oxford Nanopore Technologies (ONT), enable direct analysis of repeat length and sequence content for improved genetic disease diagnostics.

Keywords:
Long read sequencerNanopore sequencerRepeat expansion diseasesTandem repeat

More Related Videos

Amplification, Next-generation Sequencing, and Genomic DNA Mapping of Retroviral Integration Sites09:31

Amplification, Next-generation Sequencing, and Genomic DNA Mapping of Retroviral Integration Sites

Published on: March 22, 2016

17.7K
Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion05:22

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

Published on: September 13, 2024

831

Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
91.9K
Sanger Sequencing01:57

Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
755.6K
RNA-seq03:21

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
10.2K