Related Experiment Video

Updated: Oct 30, 2025

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

17.1K

cfDNA Sequencing: Technological Approaches and Bioinformatic Issues

Elodie Bohers1, Pierre-Julien Viailly1, Fabrice Jardin1

  • 1INSERM U1245, Henri Becquerel Center, IRIB, Normandy University, 76000 Rouen, France.

Pharmaceuticals (Basel, Switzerland)
|July 2, 2021
PubMed

Insights

Circulating tumoral DNA (ctDNA) is a promising biomarker for non-invasive cancer detection and monitoring. Optimizing ctDNA analysis through careful selection of sequencing technology and bioinformatics is key for reliable early cancer detection.

Area of Science:

  • Biomarkers
  • Molecular Diagnostics
  • Oncology

Background:

  • Precision medicine relies on identifying molecular alterations for targeted cancer therapy.
  • Circulating tumoral DNA (ctDNA), shed by tumors into bodily fluids, offers a non-invasive window into a patient's cancer.
  • ctDNA analysis is crucial for early cancer detection and monitoring treatment response.

Purpose of the Study:

  • To highlight the significance of ctDNA as a biomarker in precision oncology.
  • To discuss the technological advancements enabling ctDNA analysis.
  • To identify key factors influencing the sensitivity of ctDNA detection.

Main Methods:

  • Review of recent technological advancements in sequencing for ctDNA analysis.
  • Discussion of pre-analytical factors affecting ctDNA detection.
  • Evaluation of bioinformatic tools for ctDNA analysis.

Main Results:

  • ctDNA analysis has advanced significantly due to next-generation sequencing technologies.
  • Sensitivity of ctDNA detection is highly dependent on pre-analytical procedures.
  • Bioinformatic approaches play a critical role in maximizing ctDNA detection sensitivity.

Conclusions:

  • ctDNA is a powerful tool for non-invasive cancer detection and monitoring in precision medicine.
  • Reliable early detection of cancer via ctDNA requires optimization across the entire analytical pipeline.
  • Further refinement of sequencing and bioinformatics is essential for unlocking the full potential of ctDNA.
Keywords:
bioinformaticscell-free DNAcirculating tumoral DNAsequencing technologies

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.2K
Genome-wide Surveillance of Transcription Errors in Eukaryotic Organisms09:30

Genome-wide Surveillance of Transcription Errors in Eukaryotic Organisms

Published on: September 13, 2018

9.7K

Related Concept Videos

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...
10.8K
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....
94.9K
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...
763.3K
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
11.7K
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
38.2K