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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.
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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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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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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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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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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.
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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A research roadmap for next-generation sequencing informatics.

Russ B Altman1, Snehit Prabhu2, Arend Sidow3

  • 1Bioengineering, Genetics, and Medicine, Stanford University, Stanford, CA 94305, USA. russ.altman@stanford.edu.

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|April 22, 2016
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Summary
This summary is machine-generated.

Next-generation sequencing (NGS) advances diagnostic tests. Addressing nine research challenges is crucial for translating these powerful diagnostics into clinical practice.

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Area of Science:

  • Genomics
  • Molecular Diagnostics
  • Clinical Translation

Background:

  • Next-generation sequencing (NGS) technologies are rapidly advancing.
  • These advancements are driving the development of novel diagnostic tests.
  • Clinical implementation of these tests requires further research and validation.

Purpose of the Study:

  • To identify key research challenges hindering the clinical translation of NGS-based diagnostics.
  • To outline critical areas requiring progress to facilitate effective clinical adoption.
  • To guide future research efforts in molecular diagnostics.

Main Methods:

  • Literature review and expert consensus on NGS diagnostic development.
  • Identification and categorization of research gaps.
  • Analysis of challenges across nine key domains.

Main Results:

  • Progress in nine specific research challenge areas is essential.
  • These areas encompass technical, analytical, and clinical validation aspects.
  • Overcoming these challenges will accelerate diagnostic test implementation.

Conclusions:

  • Advancing NGS diagnostics requires focused research on identified challenges.
  • Addressing these nine areas is critical for successful clinical integration.
  • This framework supports the effective translation of genomic technologies into patient care.