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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

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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

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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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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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Maxam-Gilbert Sequencing01:05

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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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Evolutionary Relationships through Genome Comparisons

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Novel bioinformatic developments for exome sequencing.

Stefan H Lelieveld1, Joris A Veltman2,3, Christian Gilissen4

  • 1Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.

Human Genetics
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PubMed
Summary
This summary is machine-generated.

Next generation sequencing, including exome sequencing, is revolutionizing genetics research and diagnostics. Bioinformatics tools are advancing to manage the large scale of exome data, enabling whole genome sequencing applications.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Genetic Diagnostics

Background:

  • Exome sequencing is a standard genetic experiment due to widespread adoption and decreasing costs.
  • Bioinformatics offers solutions for exome data analysis, but challenges remain.
  • The increasing scale of exome data generation presents new storage, analysis, and interpretation hurdles.

Purpose of the Study:

  • To review recent bioinformatics developments for exome sequencing.
  • To discuss the future directions of exome data analysis.
  • To highlight the transition towards whole genome sequencing.

Main Methods:

  • Literature review of bioinformatics tools and strategies.
  • Analysis of current challenges in exome data management.
  • Discussion of emerging trends in genomic data analysis.

Main Results:

  • Standard bioinformatics solutions exist but struggle with large-scale exome data.
  • Novel approaches are emerging for efficient storage, analysis, and interpretation.
  • Exome sequencing advancements are paving the way for whole genome sequencing.

Conclusions:

  • Bioinformatics is crucial for overcoming exome data challenges.
  • Efficient data management is key to unlocking the potential of large-scale sequencing.
  • Exome sequencing serves as a precursor to the broader application of whole genome sequencing.