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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.
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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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...
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...

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

Published on: April 4, 2018

Characterizing natural variation using next-generation sequencing technologies.

Yoav Gilad1, Jonathan K Pritchard, Kevin Thornton

  • 1Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. gilad@uchicago.edu

Trends in Genetics : TIG
|October 6, 2009
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing advances evolutionary genomics by enabling genome-wide studies. However, analyzing short-read data presents challenges, necessitating a focus on understanding sequencing errors and biases.

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Last Updated: Jun 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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Area of Science:

  • Evolutionary Genomics
  • Genomic Technologies

Background:

  • High-throughput data collection is crucial for evolutionary genomics progress.
  • Next-generation sequencing (NGS) technologies offer revolutionary potential for genomic research.

Purpose of the Study:

  • To highlight the challenges in analyzing NGS data, particularly short reads.
  • To emphasize the need for understanding sources of error and bias in NGS data.

Main Methods:

  • The abstract discusses the general capabilities and limitations of NGS technologies.
  • It implies the need for advanced bioinformatic approaches for data analysis.

Main Results:

  • NGS enables genome-wide genetic variation studies and high-resolution gene regulation characterization.
  • Short reads from most platforms complicate sequence alignment and assembly.

Conclusions:

  • Overcoming NGS data analysis challenges is essential for advancing evolutionary genomics.
  • Understanding sequencing errors and biases is critical for studies on dynamic quantitative traits.