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Related Concept Videos

RNA-seq03:21

RNA-seq

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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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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.
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Sanger Sequencing01:57

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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...
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Maxam-Gilbert Sequencing01:05

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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.
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Updated: Nov 4, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis

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Towards population-scale long-read sequencing.

Wouter De Coster1,2, Matthias H Weissensteiner3, Fritz J Sedlazeck4

  • 1Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.

Nature Reviews. Genetics
|May 29, 2021
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Summary
This summary is machine-generated.

Long-read sequencing is now accurate enough for large-scale genetic studies. This review covers platforms, methods, and challenges for population-scale variant detection using this technology.

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Area of Science:

  • Genomics and Bioinformatics
  • Population Genetics
  • Next-Generation Sequencing

Background:

  • Long-read sequencing technologies have advanced significantly in accuracy and yield.
  • These advancements enable large-scale variant detection across thousands of samples.
  • The field is rapidly evolving, with new computational tools and population studies emerging.

Purpose of the Study:

  • To review recent developments in population-scale long-read sequencing.
  • To highlight challenges associated with scaling up long-read sequencing approaches.
  • To provide guidance for experimental design in population-scale studies.

Main Methods:

  • Overview of current long-read sequencing platforms.
  • Survey of variant calling methodologies.
  • Discussion of de novo assembly and reference-based mapping approaches.

Main Results:

  • Identification of key strategies for variant validation and genotyping.
  • Summary of methods for predicting the functional impact of variants.
  • Emphasis on remaining challenges for population-scale long-read sequencing.

Conclusions:

  • Long-read sequencing is a powerful tool for population-scale genetic variation studies.
  • Addressing experimental design and computational challenges is crucial for future success.
  • Continued advancements will further enable large-scale genomic analyses.