Related Experiment Video
Updated: Feb 10, 2026
15:28
Primer Extension Capture: Targeted Sequence Retrieval from Heavily Degraded DNA Sources
Published on: September 3, 2009
20.8K
A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?
Yuriy O Alekseyev1, Roghayeh Fazeli1, Shi Yang1
1Department of Pathology and Laboratory Medicine, Boston University School of Medicine and Boston Medical Center, Boston, MA, USA.
Academic Pathology
|May 16, 2018
Summary
Next-generation sequencing (NGS) offers high-throughput nucleic acid sequencing for clinical diagnostics and precision medicine. This primer introduces NGS methods, applications, and its utility in oncology and inherited conditions.
Area of Science:
- Genomics
- Molecular Biology
- Clinical Diagnostics
Background:
- Next-generation sequencing (NGS) is a high-throughput technology for determining nucleic acid sequences and identifying genetic variants.
- Its integration into clinical laboratory testing supports the advancement of precision medicine.
Purpose of the Study:
- To provide a foundational understanding of basic NGS methods and applications.
- To highlight specific examples of NGS's diagnostic and prognostic utility.
- To serve as a primer for graduate students, medical students, pathology residents, and physicians.
Main Methods:
- Review of DNA sequencing technology evolution.
- Discussion of the commercialization of NGS platforms.
- Exploration of clinical applications of NGS.
Main Results:
- NGS enables the detection of specific genetic alterations in cancer patients.
- NGS aids in diagnosing inherited conditions like cystic fibrosis.
- NGS facilitates the detection and profiling of microbial organisms.
Conclusions:
- Next-generation sequencing is a sophisticated technology with significant potential in clinical settings.
- NGS has demonstrated utility in oncology, with specific applications detailed.
- Understanding NGS is crucial for its effective application in modern healthcare.
Related Concept Videos
03:00Next-generation Sequencing
98.8K
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....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
98.8K
02:02Cis-regulatory Sequences
11.9K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
11.9K
02:02Cis-regulatory Sequences
4.2K
4.2K
01:29Sequences
285
Sequences are fundamental mathematical objects consisting of ordered lists of numbers that follow a specific rule or pattern. Sequences are critical in various mathematical concepts, including calculus, series, and number theory. They can model real-world phenomena such as population growth, financial investments, and physical processes like the diminishing height of a bouncing ball.Each number in a sequence is referred to as a term. Typically, the terms are denoted as a1, a2, a3,…, where...
285
01:57Sanger Sequencing
774.9K
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...
774.9K
01:30Arithmetic Sequences
242
An arithmetic sequence is a structured arrangement of numbers where each term is derived by adding a constant value, known as the common difference, to the previous term. This consistent pattern allows for the efficient computation of any term within the sequence as well as the cumulative sum of multiple terms. The formula for finding the nth term of an arithmetic sequence is:Here, aₙ represents the nth term of the sequence, a is the first term, d is the common difference, and n is the...
242