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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...
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...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
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: May 8, 2026

Pyrosequencing for Microbial Identification and Characterization
12:37

Pyrosequencing for Microbial Identification and Characterization

Published on: August 22, 2013

A sequence of methodological changes due to sequencing.

Kelly Burkett1, Celia Greenwood

  • 1Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, Quebec, Canada.

Current Opinion in Allergy and Clinical Immunology
|August 27, 2013
PubMed
Summary

Next-generation sequencing has transformed genetic association studies, leading to new statistical methods for rare variant analysis and improved genotype imputation. However, challenges remain in rare variant imputation and accounting for population structure.

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Pyrosequencing for Microbial Identification and Characterization
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Area of Science:

  • Genetics
  • Statistical Genetics
  • Bioinformatics

Background:

  • Next-generation sequencing has rapidly advanced genetic association studies over the past two years.
  • This evolution necessitates a corresponding development in statistical methodologies.

Purpose of the Study:

  • To review the recent evolution of statistical methods in genetic association studies.
  • To highlight advancements driven by next-generation sequencing data.

Main Methods:

  • Development of novel statistical methods for rare variant association studies.
  • Integration of sequencing data with genome-wide association study (GWAS) chip data for genotype imputation.
  • Application of linear mixed effect models (LMMs) for handling effect heterogeneity and population structure.

Main Results:

  • Numerous rare variant association tests have been created, but no single method is universally superior, and power is often limited.
  • Sequencing data enhance imputation of uncommon variants, though rare variant imputation remains difficult.
  • The optimal approach for correcting population structure in rare variant analyses is still under investigation.

Conclusions:

  • While many statistical tools exist for analyzing rare variants from sequencing, their performance varies, and power is a concern.
  • Improved genotype imputation is a benefit of sequencing data, but challenges persist for very rare variants.
  • Further research is needed to clarify population structure correction methods for rare variant association studies.