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Next-generation Sequencing

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....

Genome Annotation and Assembly

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.

Evolutionary Relationships through Genome Comparisons

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...

Comparing Copy Number Variations and SNPs

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%...

Sanger Sequencing

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...

Genomics

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 Videos

Detecting structural variations in the human genome using next generation sequencing.

Ruibin Xi¹, Tae-Min Kim, Peter J Park

¹Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.

Briefings in Functional Genomics

|January 11, 2011

Summary

This summary is machine-generated.

Next-generation sequencing advances human genome analysis, enabling precise detection of structural variations. These methods identify novel genetic markers for clinical and evolutionary research, surpassing older technologies.

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Area of Science:

Genomics
Bioinformatics
Human Genetics

Background:

Structural variations are common in the human genome.
These variations are crucial genetic markers in clinical and evolutionary studies.
Next-generation sequencing (NGS) technologies offer high-resolution detection of these variations.

Purpose of the Study:

To review sequencing-based algorithms for structural variation detection.
To discuss the advantages of NGS over conventional methods.
To highlight future directions in structural variation analysis.

Main Methods:

Review of current literature on sequencing-based algorithms.
Comparative analysis of NGS with microarray-based platforms.
Discussion of challenges and opportunities in structural variation detection.

Main Results:

NGS enables unprecedented resolution and accuracy in identifying structural variations.
New variants, including dosage-invariant translocations and inversions, are discoverable.
Sequencing-based methods overcome limitations of older technologies.

Conclusions:

Advances in sequencing technology are revolutionizing structural variation detection.
These advancements are critical for clinical diagnostics and evolutionary genomics.
Further development of algorithms is essential for maximizing the potential of NGS.