Search research articles

Related Concept Videos

RNA-seq

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...

You might also read

Related Articles

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

Sort by

Same author

PD-1 and TIGIT coexpression enables selective enrichment of clonally expanded tumor-reactive CD8 T cells for melanoma TIL therapy.

Journal of translational medicine·2026

Same author

Healthcare professionals show high AI enthusiasm but limited knowledge: A cross-sectional study.

PLOS digital health·2026

Same author

Comprehensive profiling of CRISPR/dCas9 epigenome editors indicates a complex link between on and off target effects.

Genome biology·2026

Same author

Accelerating Genomics: Innovations in Analyzing Limited and Rare Samples.

Methods in molecular biology (Clifton, N.J.)·2026

Same author

Comparative Performance of Methylation Array and Bisulfite Sequencing in Ovarian Tissue Samples and Cervical Swabs.

Cancer control : journal of the Moffitt Cancer Center·2025

Same author

Correction: Exome Sequencing Starting from Single Cells.

Current protocols·2024

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Video

Updated: Jun 12, 2025

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

Published on: May 23, 2018

Exome Sequencing Starting from Single Cells.

Ioanna Andreou¹, Markus Storbeck¹, Peter Hahn¹

¹QIAGEN GmbH, Hilden, Germany.

Current Protocols

|September 26, 2024

Summary

This summary is machine-generated.

Single-cell genomic analysis is now feasible using multiple displacement amplification (MDA) for unbiased DNA amplification. This enables high-complexity next-generation sequencing (NGS) libraries for comprehensive variant detection in research.

Keywords:

exome enrichment genomics multiple displacement amplification single cell

More Related Videos

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Published on: January 10, 2019

Reusable Single Cell for Iterative Epigenomic Analyses

Reusable Single Cell for Iterative Epigenomic Analyses

Published on: February 11, 2022

Related Experiment Videos

Last Updated: Jun 12, 2025

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

Published on: May 23, 2018

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Published on: January 10, 2019

Reusable Single Cell for Iterative Epigenomic Analyses

Reusable Single Cell for Iterative Epigenomic Analyses

Published on: February 11, 2022

Area of Science:

Genomics
Molecular Biology
Biotechnology

Background:

Single-cell genomic analysis offers insights into development, tumors, and diseases.
Limited DNA in single cells traditionally challenges next-generation sequencing (NGS).
Multiple displacement amplification (MDA) provides unbiased amplification of limited DNA quantities.

Purpose of the Study:

To describe a complete workflow for generating exome-NGS libraries from single cells or small DNA amounts.
To detail protocols for whole genome amplification, NGS library generation, and exome enrichment.
To facilitate comprehensive genetic variation analysis for inherited diseases of unknown origin.

Main Methods:

Utilizing multiple displacement amplification (MDA) for unbiased whole genome amplification from single cells or small DNA quantities.
Generating high-complexity NGS libraries from MDA-amplified DNA for high coverage.
Employing hybrid capture enrichment methods after preamplification for exome sequencing.

Main Results:

Successful generation of exome-NGS libraries from single cells and small DNA amounts.
High yield and complexity of NGS libraries ensuring effective variant calling.
Demonstration of a complete workflow compatible with Illumina sequencing instruments.

Conclusions:

MDA technology overcomes DNA limitations for single-cell genomic analysis.
The described protocols enable comprehensive exome sequencing for identifying genetic variations.
This workflow supports research in developmental biology, tumor heterogeneity, and disease pathogenesis.