Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

RNA-seq03:21

RNA-seq

9.3K
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...
9.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Autonomous biomedical research with an artificial intelligence agent.

Science (New York, N.Y.)·2026
Same author

LOESS and DE-SWAN can induce artifactual "waves" of molecular aging.

bioRxiv : the preprint server for biology·2026
Same author

The gut microbiome of a Northern Plains tribe is in transition between global Indigenous and industrialized populations.

Cell reports·2026
Same author

Reply to I Jannasz et al: DIETFITS cohort, modeling, and molecules.

The American journal of clinical nutrition·2026
Same author

Spatial distribution of the proteome in the human body and in cancers.

Nature·2026
Same author

Power and sample-size estimation in human microbiome research.

Med (New York, N.Y.)·2026

Related Experiment Video

Updated: Apr 27, 2026

Single Read and Paired End mRNA-Seq Illumina Libraries from 10 Nanograms Total RNA
14:49

Single Read and Paired End mRNA-Seq Illumina Libraries from 10 Nanograms Total RNA

Published on: October 27, 2011

39.5K

Defining a personal, allele-specific, and single-molecule long-read transcriptome.

Hagen Tilgner1, Fabian Grubert1, Donald Sharon2

  • 1Department of Genetics, Stanford University, Stanford, CA 94305-5120; and.

Proceedings of the National Academy of Sciences of the United States of America
|June 26, 2014
PubMed
Summary

This study presents the first large-scale, full-length personal transcriptomes, defining individual genetic variants and transcript isoforms for a deeper understanding of personal biology and disease. This breakthrough enables precise assessment of differential allelic expression and isoforms.

Keywords:
allele-specific expressionalternative splicingisoform sequencingpersonalized medicineplatform comparison

More Related Videos

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

24.9K
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

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

Published on: November 3, 2010

23.3K

Related Experiment Videos

Last Updated: Apr 27, 2026

Single Read and Paired End mRNA-Seq Illumina Libraries from 10 Nanograms Total RNA
14:49

Single Read and Paired End mRNA-Seq Illumina Libraries from 10 Nanograms Total RNA

Published on: October 27, 2011

39.5K
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

24.9K
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

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

Published on: November 3, 2010

23.3K

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Personal transcriptomes, detailing genetic variants and transcript isoforms, are crucial for understanding individual biology and disease.
  • Previous studies lacked comprehensive, full-length personal transcriptome data.

Purpose of the Study:

  • To generate the first large-scale, full-length personal transcriptomes.
  • To develop methods for defining and quantifying individual genetic variants and transcript isoforms.
  • To enable the study of differential allelic expression and isoforms.

Main Methods:

  • Utilized Pacific Biosciences long-read sequencing combined with Illumina short-read sequencing.
  • Sequenced lymphoblastoid cell lines from three family members.
  • Developed novel bioinformatics approaches to identify and quantify splice sites, isoforms, and single nucleotide variants (SNVs).

Main Results:

  • Successfully captured full-length transcript reads for most expressed genes, including splice sites.
  • Created the first personalized transcriptome annotation by adding novel splicing isoforms.
  • Linked SNVs to RNA haplotypes, enabling allele-specific transcript analysis and demonstrating Mendelian inheritance of RNA molecules.
  • Developed a method to assess differential allelic expression (DAE) and differential allelic isoforms (DAI) from phased, full-length isoform reads, showing DAI independence from SNV-exon distance.

Conclusions:

  • This work establishes a comprehensive approach to personal transcriptome sequencing and analysis.
  • The generated data significantly improves eukaryotic transcriptome annotation.
  • The methods provide a powerful tool for studying individual biology, disease mechanisms, and allele-specific gene expression.