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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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Genomics02:02

Genomics

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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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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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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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Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
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Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Updated: Sep 28, 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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A next-generation human genome sequence.

Deanna M Church1

  • 1Inscripta, Inc., Boulder, CO, USA.

Science (New York, N.Y.)
|March 31, 2022
PubMed
Summary
This summary is machine-generated.

A near-complete human genome sequence provides a new reference, paving the way for more inclusive genetic research and understanding. This advancement aims to improve representation in genomic studies.

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G2-seq: A High Throughput Sequencing-based Technique for Identifying Late Replicating Regions of the Genome
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Area of Science:

  • Genomics
  • Bioinformatics
  • Population Genetics

Background:

  • The human genome reference sequence is crucial for genetic research.
  • Current reference genomes lack diversity, potentially biasing research outcomes.
  • There is a need for a more inclusive and representative human genome reference.

Purpose of the Study:

  • To present a near-complete human genome sequence.
  • To establish a foundation for a more inclusive genomic reference.
  • To facilitate broader representation in human genetic studies.

Main Methods:

  • Advanced sequencing technologies were employed.
  • Bioinformatic pipelines were utilized for sequence assembly and analysis.
  • Comparative genomics approaches were used to assess inclusivity.

Main Results:

  • A high-quality, near-complete genome sequence was generated.
  • The new sequence incorporates regions previously missing from reference genomes.
  • Initial analyses suggest improved representation of diverse populations.

Conclusions:

  • The developed genome sequence represents a significant step towards a more inclusive human reference.
  • This resource has the potential to reduce bias in genetic research.
  • Further efforts are needed to fully realize a universally representative genomic reference.