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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.

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...

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...

Maxam-Gilbert Sequencing

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...

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.

RNA-seq

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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Updated: Jun 15, 2026

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

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

Published on: April 4, 2018

Personal genome sequencing: current approaches and challenges.

Michael Snyder¹, Jiang Du, Mark Gerstein

¹Department of Genetics, Stanford University School of Medicine, California 94305, USA. mpsnyder@stanford.edu

Genes & Development

|March 3, 2010

Summary

This summary is machine-generated.

Personal genome sequencing is now feasible due to DNA technology advancements. This review covers personal genome sequencing methods, challenges, and benefits for individuals and society.

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Area of Science:

Genomics
Biotechnology
Bioinformatics

Background:

DNA sequencing technologies have advanced significantly, enabling the determination of individual "personal genomes."
Genome sequences from normal and diseased cells and tissues are now accessible.
Current methods focus on identifying variations against a reference genome rather than de novo assembly.

Purpose of the Study:

To review the current state of personal genome sequencing.
To outline the key steps in determining a personal genome sequence.
To discuss the challenges, accuracy metrics, and benefits of personal genomics.

Main Methods:

Identification of single-nucleotide polymorphisms (SNPs) and structural variations (SVs).
Assembly of novel DNA sequences.
Phasing of haplotypes to determine allele combinations on chromosomes.
Evaluation of reconstruction accuracy using defined performance metrics.

Main Results:

Personal genome sequencing is a rapidly evolving field.
Key steps include variation identification, sequence assembly, and haplotype phasing.
Accuracy assessment is crucial for reliable personal genome reconstruction.

Conclusions:

Personal genome sequencing offers potential individual and societal benefits.
Understanding the methods and challenges is vital for advancing the field.
Future applications of personal genomics are vast and impactful.