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Related Concept Videos

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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Next-generation Sequencing03:00

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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
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Sanger Sequencing01:57

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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

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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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Genome Annotation and Assembly03:36

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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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Maxam-Gilbert Sequencing01:05

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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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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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Whole genome sequencing.

Pauline C Ng1, Ewen F Kirkness

  • 1The J. Craig Venter Institute, Rockville, MD, USA.

Methods in Molecular Biology (Clifton, N.J.)
|March 19, 2010
PubMed
Summary
This summary is machine-generated.

Whole genome sequencing offers a complete view of genetic variation, shifting from older microarray methods. This review covers key whole genome sequencing (WGS) assembly and variation identification techniques.

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Area of Science:

  • Genomics
  • Bioinformatics

Background:

  • Whole genome sequencing (WGS) offers comprehensive genetic variation data.
  • Decreasing sequencing costs are driving a transition from microarray genotyping to WGS.

Purpose of the Study:

  • To review current methodologies for whole genome sequencing (WGS).
  • To discuss approaches for assembling short sequence reads and identifying genetic variations.

Main Methods:

  • De novo assembly: Overlapping sequence reads to build contiguous genomic sequences.
  • Reference-based assembly: Mapping sequence reads to a known reference genome.

Main Results:

  • Identified two primary assembly approaches: de novo and reference-based.
  • Discussed methods for detecting single nucleotide polymorphisms, indels, and copy number variants.
  • Highlighted potential challenges and pitfalls in genome assembly and variation analysis.

Conclusions:

  • Whole genome sequencing (WGS) is becoming the standard for genetic variation studies.
  • Methodologies are rapidly advancing with improvements in sequencing technology and increasing human genome data.