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Related Concept Videos

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.
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...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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...
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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 DNA...
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...

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Related Experiment Video

Updated: Jun 8, 2026

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

[New technologies for the human genome exploration].

B Keren1, C Schluth-Bolard, G Egea

  • 1Département de génétique, hôpital de la Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, 47-83, boulevard de l'hôpital, 75013 Paris, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|September 17, 2010
PubMed
Summary
This summary is machine-generated.

Human genome analysis uses molecular genetics and cytogenetics. Advanced techniques like array comparative genomic hybridization (array CGH) offer high resolution but require careful interpretation and ethical consideration.

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

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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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Area of Science:

  • Genomics
  • Molecular Genetics
  • Cytogenetics

Context:

  • The human genome, organized into 23 chromosome pairs, contains our genetic blueprint.
  • Traditional methods include molecular genetics (direct sequencing for gene mutations) and cytogenetics (karyotyping for large chromosomal anomalies).
  • Karyotyping has a resolution limit, unable to detect abnormalities smaller than five megabases.

Purpose:

  • To explore advanced genomic analysis techniques.
  • To highlight the evolution from traditional methods to high-resolution genomic analysis.
  • To discuss the diagnostic utility and challenges of new genomic technologies.

Summary:

  • Combining cytogenetics and molecular genetics has led to high-resolution genomic analysis techniques.
  • Comparative genomic hybridization on microarray (array CGH) is a leading technique with current diagnostic applications.
  • These advanced methods offer comprehensive genome analysis but present interpretation and ethical challenges.

Impact:

  • Array CGH provides unprecedented resolution for detecting genetic abnormalities.
  • New genomic techniques are transforming genetic diagnostics.
  • Careful supervision and ethical guidelines are crucial for implementing advanced genomic analysis.