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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...

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Updated: Feb 26, 2026

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

New library construction method for single-cell genomes.

Larry Xi¹, Alexander Belyaev¹, Sandra Spurgeon¹

¹Fluidigm Corporation, South San Francisco, California, United States of America.

|July 21, 2017

Summary

This summary is machine-generated.

This study introduces a new method for single-cell genome sequencing. The novel approach improves the accuracy of detecting mutations and copy number variations even with low sequencing coverage.

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Area of Science:

Genomics
Molecular Biology
Biotechnology

Background:

Accurate point mutation and copy number variation determination in single-cell genomes is challenging.
Low sequencing coverage is desired for cost-effectiveness and efficiency.

Purpose of the Study:

To develop a novel library construction and amplification methodology for single-cell genome sequencing.
To achieve accurate determination of point mutations, mutation phasing, and copy number variations with minimal assumptions.
To enable these analyses under low sequencing coverage.

Main Methods:

Single-cell genomic DNA fragmentation using saturated transposition to create a primary library.
Uniform whole-genome coverage with short DNA fragments.
Optimized Polymerase Chain Reaction (PCR) amplification for uniform and synchronized library preparation.
Quantitative characterization of each protocol step.

Main Results:

The developed methodology results in a tightly distributed library.
Shallow sequencing data demonstrate the utility of the library for copy number variation determination.
The protocol allows for quantitative characterization of each step.

Conclusions:

The novel library construction and amplification method effectively addresses challenges in single-cell genome sequencing.
The approach enables accurate genomic analysis, including copy number variations, at low sequencing depths.
This methodology holds promise for advancing single-cell genomics research.