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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.
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...
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...

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Related Experiment Video

Updated: Jul 1, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Rapid whole-genome mutational profiling using next-generation sequencing technologies.

Douglas R Smith1, Aaron R Quinlan, Heather E Peckham

  • 1Agencourt Bioscience Corporation, Beverly, Massachusetts 01915, USA. douglas.smith@agencourt.com

Genome Research
|September 9, 2008
PubMed
Summary
This summary is machine-generated.

New sequencing technologies rapidly and cost-effectively identify mutations in engineered yeast strains. Whole-genome analysis accurately characterizes variant organisms, aiding metabolic engineering and gene function discovery.

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Last Updated: Jul 1, 2026

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

Area of Science:

  • Microbiology
  • Genomics
  • Biotechnology

Background:

  • Forward genetic studies create organisms with novel traits but struggle to identify mutations.
  • Traditional genetic tools are insufficient for characterizing mutations in complex, engineered strains.

Purpose of the Study:

  • To demonstrate the efficacy of high-throughput sequencing for whole-genome characterization of mutant organisms.
  • To assess the accuracy and cost-effectiveness of new sequencing technologies for mutation detection.

Main Methods:

  • Resequencing of a Pichia stipitis mutant strain, developed over seven years, on three different sequencing platforms.
  • Comparative analysis of the mutant genome against a reference parental strain to identify genetic variations.

Main Results:

  • Fewer than a dozen mutations were found in open reading frames of the Pichia stipitis mutant.
  • All three sequencing platforms accurately identified single nucleotide mutations with 10-15-fold coverage.
  • Whole-genome sequencing proved rapid and cost-effective for detecting mutations in evolved strains.

Conclusions:

  • High-throughput sequencing offers a powerful solution for identifying mutations in engineered organisms.
  • Accurate mutation identification provides insights into gene function and guides future metabolic engineering efforts.