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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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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....
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Wood Panel Products01:18

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Wood panel products are essential materials used in construction for applications such as flooring, siding, and roofing, typically available in standard dimensions of 4 feet by 8 feet, with thicknesses varying from one-quarter of an inch to one and one-eighth inches. Among the most common types of wood panels is plywood, which is produced by gluing multiple layers of thin wood veneers under pressure. The grain of the outer veneers runs lengthwise, while the grains of the interior layers run...
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Velocity of an Object01:18

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Understanding how an object moves along a path requires distinguishing between motion over a time span and motion at a precise moment. A useful example is a vehicle traveling along a straight and level path, where its position at any given time is known. The initial step in analyzing this motion is to measure how far the vehicle travels over a fixed time period. This measurement, called average velocity, is computed by dividing the total change in position by the duration over which the change...
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Potential Due to a Polarized Object01:29

Potential Due to a Polarized Object

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A neutral atom consists of a positively charged nucleus surrounded by a negatively charged electron cloud. When placed in an external electric field, the external electric force pulls the electrons and nucleus apart, opposite to the intrinsic attraction between the nucleus and the electrons. The opposing forces balance each other with a slight shift between the center of masses of the nucleus and the electron cloud, resulting in a polarized atom. On the other hand, a few molecules, like water,...
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Potential Due to a Magnetized Object01:24

Potential Due to a Magnetized Object

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Magnetic dipoles in magnetic materials are aligned when placed under an external magnetic field. For paramagnets and ferromagnets, dipole alignment occurs in the direction of the magnetic field. However, the dipoles align opposite to the field in the case of diamagnets. This state of magnetic polarization due to the external field is called magnetization. Magnetization is defined as the dipole moment per unit volume. It plays a similar role to polarization in electrostatics.
The vector...
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Cis-regulatory Sequences02:02

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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...
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Related Experiment Video

Updated: Jan 31, 2026

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

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An Objective Method for Evaluating Next-Generation Sequencing Panels.

Kaitlin Angione1, Melissa Gibbons1, Scott Demarest1

  • 1Department of Pediatrics, Section of Neurology, University of Colorado Denver, Aurora, CO, USA.

Journal of Child Neurology
|December 21, 2018
PubMed
Summary
This summary is machine-generated.

Developing an objective system to evaluate next-generation sequencing (NGS) panels aids in selecting the best genetic testing. This quality assessment method ensures accurate diagnoses for patients with complex conditions.

Keywords:
epilepsygeneticsmutationnext-generation sequencingpediatric

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Area of Science:

  • Genomics
  • Clinical Diagnostics
  • Bioinformatics

Background:

  • Next-generation sequencing (NGS) panels enable simultaneous analysis of multiple genes, crucial for diagnosing patients with nonspecific clinical findings.
  • Evaluating the quality of these comprehensive genetic testing panels is essential for reliable clinical application.

Purpose of the Study:

  • To develop a simple, objective system for assessing the quality of available NGS panels.
  • To create a standardized method for comparing different NGS panels used in clinical settings.

Main Methods:

  • A literature review identified key features of NGS panels, which were refined into a core set of quality criteria.
  • This core set was applied to epilepsy NGS panels from 8 laboratories, using objective measures to develop a scoring system.

Main Results:

  • Significant variability was observed across 6 core quality criteria among the evaluated NGS panels.
  • The developed scoring system effectively differentiated laboratories based on panel strengths and weaknesses, providing clinically meaningful distinctions.

Conclusions:

  • An objective, unbiased method for comparing NGS panels has been demonstrated.
  • This approach can be adapted for any clinical phenotype, aiding in the selection of optimal genetic tests for specific indications.