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Related Experiment Video

Updated: Aug 26, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Long-read transcriptome sequencing reveals allele-specific variants at high resolution.

Jingni Wu¹, Wei Hu², Shengli Li¹

¹Precision Research Center for Refractory Diseases, Institute for Clinical Research, Shanghai Jiao Tong University School of Medicine, Shanghai 201620, China.

Trends in Genetics : TIG

|October 7, 2022

Summary

Researchers analyzed allele-specific transcript changes using long-read RNA sequencing. This study offers a detailed look at how genetic variants linked to disease impact human transcript structure.

Keywords:

allele-specific expression allele-specific transcript structure heterozygous genetic variants long-read RNA sequencing

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Last Updated: Aug 26, 2025

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RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level

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Published on: May 19, 2019

Area of Science:

Genomics
Molecular Biology
Human Genetics

Background:

Transcript structure regulation is vital for human health.
Dysregulation is implicated in various human diseases.
Understanding genetic variant effects on transcripts is crucial.

Purpose of the Study:

To characterize allele-specific transcript alterations.
To analyze long-read RNA sequencing data from diverse human tissues.
To provide a high-resolution view of genetic variant impacts on transcript structure.

Main Methods:

Utilized long-read RNA sequencing (RNA-seq).
Analyzed data from multiple human tissues.
Focused on allele-specific transcript alterations.

Main Results:

Characterized allele-specific transcript alterations with high resolution.
Provided insights into how genetic variants affect transcript structure.
Identified specific transcript changes in relation to disease-associated variants.

Conclusions:

Disturbances in transcript structure regulation are key in human disease.
Long-read RNA-seq is effective for detailed transcript analysis.
Genetic variants significantly influence human transcript structure.