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Related Concept Videos

Genomics02:02

Genomics

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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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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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Sanger Sequencing01:57

Sanger Sequencing

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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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RNA-seq03:21

RNA-seq

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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. 
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Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

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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...
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Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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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.
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Updated: Nov 6, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

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Whole-genome sequencing.

Huw R Morris1, Henry Houlden2, James Polke3

  • 1Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK h.morris@ucl.ac.uk.

Practical Neurology
|May 11, 2021
PubMed
Summary
This summary is machine-generated.

Whole-genome sequencing offers rapid genetic disease diagnoses but presents annotation challenges. Close collaboration between clinicians and laboratories is crucial for effective implementation in neurology clinics.

Keywords:
neurogenetics

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Area of Science:

  • Genomics
  • Clinical Genetics
  • Neurology

Background:

  • Decreasing costs of whole-genome sequencing (WGS) are driving its adoption in clinical research and routine care.
  • WGS facilitates faster diagnoses for patients with rare genetic disorders.
  • Genomic diversity and variant annotation complexities introduce diagnostic uncertainties.

Purpose of the Study:

  • To outline the organizational steps for implementing WGS in neurology clinics.
  • To highlight the importance of clinician-laboratory communication in WGS workflows.

Main Methods:

  • Descriptive outline of WGS implementation steps for neurological patients.
  • Emphasis on interdisciplinary communication protocols.

Main Results:

  • Identification of key organizational steps for WGS in clinical neurology.
  • Reinforcement of the necessity for strong clinician-laboratory liaison.

Conclusions:

  • Effective integration of WGS into neurology requires careful planning and robust communication.
  • Addressing variant annotation challenges is essential for maximizing diagnostic yield and patient benefit.