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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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Genomics02:02

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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...
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Sanger Sequencing01:57

Sanger Sequencing

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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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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. 
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Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

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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: May 7, 2025

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Innovations in Short-Read Sequencing Technologies and Their Applications to Clinical Genomics.

Katarzyna Polonis1, Joseph H Blommel2, Andrew E O Hughes1

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Emerging short-read sequencing technologies offer new options for clinical genomics laboratories. This review details platforms to aid in selecting solutions for improved patient care and genomic applications.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Massively parallel sequencing (MPS) revolutionized genomic science, enabling large-scale studies and clinical applications like disease diagnosis and surveillance.
  • The commercial sequencing market, historically dominated by a few companies, is now seeing new platforms emerge.
  • These new technologies aim to improve efficiency, reduce costs, and expand sequencing applications in various settings.

Purpose of the Study:

  • To review and describe emerging short-read sequencing platforms.
  • To discuss the innovative approaches, principles, workflows, and applications of these platforms.
  • To inform laboratory geneticists, clinicians, and researchers about advancements in clinical genomics.

Main Methods:

  • Review of short-read sequencing platforms from major vendors including Illumina, Element Biosciences, MGI, PacBio, Singular Genomics, Thermo Fisher Scientific, and Ultima Genomics.
  • Analysis of the technological principles and innovative approaches of each platform.
  • Discussion of their potential applications and integration into clinical workflows.

Main Results:

  • Detailed descriptions of several new short-read sequencing platforms.
  • Highlighting of unique technological features and potential improvements over existing methods.
  • Identification of key factors for laboratories to consider when evaluating these platforms.

Conclusions:

  • Emerging short-read technologies present viable alternatives and improvements for clinical genomics.
  • Selection of appropriate platforms requires careful consideration of applications, throughput, and workflow integration.
  • These advancements have the potential to enhance patient care through improved genomic testing.