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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.
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...
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...
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...
RNA-seq03:21

RNA-seq

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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...

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Transcriptomic Analysis of C. elegans RNA Sequencing Data Through the Tuxedo Suite on the Galaxy Project
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Transcriptomic Analysis of C. elegans RNA Sequencing Data Through the Tuxedo Suite on the Galaxy Project

Published on: April 8, 2017

Challenges of sequencing human genomes.

Daniel C Koboldt1, Li Ding, Elaine R Mardis

  • 1The Genome Center at Washington University, St. Louis, Missouri 63108, USA. dkoboldt@genome.wustl.edu

Briefings in Bioinformatics
|June 4, 2010
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing (NGS) offers powerful tools for human genetics research. This review covers current NGS technologies and strategies to overcome challenges in analyzing large datasets for comprehensive DNA variation characterization.

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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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Transcriptomic Analysis of C. elegans RNA Sequencing Data Through the Tuxedo Suite on the Galaxy Project
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Area of Science:

  • Genetics
  • Genomics
  • Bioinformatics

Background:

  • Massively parallel sequencing technologies are transforming human genetics research.
  • Decreasing costs make next-generation sequencing (NGS) instruments and data more accessible.
  • Researchers are keen to utilize these advanced sequencing capabilities.

Purpose of the Study:

  • To review the current state of next-generation sequencing (NGS) technologies.
  • To outline strategies for characterizing the full spectrum of human DNA sequence variation using NGS.
  • To address the production and bioinformatics challenges associated with NGS data.

Main Methods:

  • Review of current next-generation sequencing (NGS) platforms.
  • Discussion of common production challenges (e.g., contamination, chimeras, run quality).
  • Analysis of bioinformatics hurdles, including short-read lengths and data volume.

Main Results:

  • NGS technologies present significant production and data analysis challenges.
  • Streamlined, automated bioinformatics pipelines are crucial for efficient research.
  • Strategies exist to manage NGS data and characterize human genetic variation.

Conclusions:

  • Overcoming NGS challenges is key to accelerating human genetics research and publication.
  • Effective data analysis strategies are essential for harnessing the full potential of NGS.
  • This review provides insights into current NGS capabilities and future directions for genetic variation studies.