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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.
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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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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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An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing
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Single-cell sequencing: promises and challenges for human genetics.

Varun K A Sreenivasan1, Jana Henck1,2, Malte Spielmann1,2,3

  • 1Institute of Human Genetics, University Hospital Schleswig-Holstein, University of Lübeck and Kiel University, 23562 Lübeck, 24105 Kiel, Germany.

Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|June 5, 2024
PubMed
Summary

Single-cell sequencing offers high-resolution molecular phenotyping for human genetics. This technology aids in disease monitoring, genome annotation, and understanding genetic alterations.

Keywords:
CRISPRcell atlascellular compositiondiagnosticsdisease characterizationhuman geneticsphenotypingsaturation gene editingsingle-cell sequencingtherapy

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Area of Science:

  • Genomics
  • Molecular Biology
  • Human Genetics

Background:

  • Single-cell sequencing has revolutionized biological research over the past decade.
  • It provides unprecedented cellular resolution for molecular phenotyping, even in whole organisms.
  • This technology is crucial for understanding the phenotypic consequences of genetic and epigenetic alterations in human genetics.

Purpose of the Study:

  • To review the current status of single-cell sequencing technology.
  • To highlight its applications and significance in the field of human genetics.
  • To provide insights for clinicians in human genetics regarding this transformative technology.

Main Methods:

  • The review synthesizes current literature on single-cell sequencing.
  • It describes the fundamental principles of how single-cell sequencing technologies function.
  • Applications in disease characterization, cell atlas development, and genome annotation are discussed.

Main Results:

  • Single-cell sequencing enables unbiased molecular phenotyping at massive scale.
  • The technology is instrumental in functionally annotating the human genome and its variants.
  • It is being applied to characterize and monitor various diseases.

Conclusions:

  • Single-cell sequencing is a transformative technology for human genetics.
  • It holds significant promise for comprehensive genome annotation and disease understanding.
  • Its continued development will further advance clinical genetics research and practice.