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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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RNA-seq03:21

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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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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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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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Sanger Sequencing01:57

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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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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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Bioinformatics for clinical next generation sequencing.

Gavin R Oliver1, Steven N Hart1, Eric W Klee2

  • 1Department of Health Sciences Research, Mayo Clinic, Rochester, MN.

Clinical Chemistry
|December 3, 2014
PubMed
Summary
This summary is machine-generated.

Bioinformatics is crucial for next-generation sequencing (NGS) genetic tests, transforming complex data into actionable insights. Laboratories need robust bioinformatics workflows that meet clinical standards and adapt to evolving technologies.

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Area of Science:

  • Genomic Medicine
  • Clinical Bioinformatics
  • Molecular Diagnostics

Background:

  • Next-generation sequencing (NGS) is revolutionizing genetic testing.
  • Bioinformatics is essential for managing complex NGS data in clinical settings.
  • Understanding computational workflows is vital for molecular diagnostics laboratories.

Purpose of the Study:

  • To review the essential bioinformatics components of clinical NGS workflows.
  • To highlight the importance of informatics in genetic testing.
  • To discuss regulatory considerations for bioinformatics analyses.

Main Methods:

  • Conceptualization of NGS computational components into primary, secondary, and tertiary analytics.
  • Review of the transformation of raw sequencing data into clinically actionable knowledge.
  • Examination of informatics needs and regulatory requirements for molecular diagnostics.

Main Results:

  • Bioinformatics is integral to generating, analyzing, and interpreting molecular genetics data.
  • Effective bioinformatics workflows are necessary for clinical NGS implementation.
  • The review covers essential bioinformatics concepts and regulatory aspects.

Conclusions:

  • Bioinformatics is indispensable for modern clinical molecular genetics testing.
  • Laboratories must establish rigorous yet flexible bioinformatics workflows for NGS.
  • Adapting to evolving sequencing technologies and software is critical for service providers.