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Related Concept Videos

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...
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.
Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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.
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: Jul 1, 2026

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
22:27

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

Published on: May 7, 2010

An evaluation of the draft human genome sequence.

N Katsanis1, K C Worley, J R Lupski

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, Texas 77030, USA.

Nature Genetics
|August 31, 2001
PubMed
Summary

The human genome draft sequence provided global insights but had limitations in positional accuracy. Mapping expressed sequence tags revealed discrepancies, impacting detailed chromosomal subregion characterization.

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High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture (4C-seq)
09:06

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture (4C-seq)

Published on: October 5, 2018

Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Biology

Background:

  • The draft human genome sequence, released in June 2000, offered insights into gene counts and families.
  • Accurate positional information within the genome is crucial for identifying genes associated with diseases.
  • The draft sequence aimed to provide a foundational map of the human genetic landscape.

Purpose of the Study:

  • To evaluate the accuracy and coverage of the public draft human genome sequence.
  • To assess the reliability of positional information derived from the draft genome.
  • To identify limitations in the draft sequence for detailed genomic analysis.

Main Methods:

  • Utilized a collection of 925 nonredundant expressed sequence tags (ESTs).
  • Performed mapping and computational analyses comparing ESTs against draft genome sequences.
  • Examined genome sequences available at various time points between April 2000 and April 2001.

Main Results:

  • Identified discrepancies in the reported coverage of the human genome.
  • Found inaccuracies in the mapping of genomic clones to the draft sequence.
  • These findings suggest limitations in the draft genome's positional accuracy and subregional characterization.

Conclusions:

  • The draft human genome sequence, while valuable, exhibits limitations in providing precise positional data.
  • Discrepancies in mapping highlight the need for continued refinement of the human genome sequence.
  • Further validation is necessary for applications requiring detailed chromosomal subregion information.