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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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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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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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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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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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
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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: Mar 21, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Advancing Benchmarks for Genome Sequencing.

Justin M Zook1, Marc Salit2

  • 1Genome-scale Measurements Group, National Institute of Standards and Technology, Gaithersburg, MD 20899, USA.

Cell Systems
|May 3, 2016
PubMed
Summary
This summary is machine-generated.

Recent benchmarking efforts offer valuable reference datasets and samples. These resources aim to enhance the accuracy of genome sequencing and mutation calling for both germline and somatic variations.

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Related Experiment Videos

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G2-seq: A High Throughput Sequencing-based Technique for Identifying Late Replicating Regions of the Genome
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Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Biology

Background:

  • Accurate detection of genetic mutations is crucial for understanding diseases.
  • Genome sequencing technologies have advanced significantly, but challenges remain in precise mutation calling.
  • Germline and somatic mutations have distinct implications in diagnostics and therapeutics.

Purpose of the Study:

  • To highlight the importance of benchmarking efforts in genomics.
  • To introduce reference datasets and samples for improving mutation detection.
  • To address the need for enhanced genome sequencing and mutation calling accuracy.

Main Methods:

  • Review of recent benchmarking initiatives in the field of genomics.
  • Analysis of provided reference datasets and samples.
  • Evaluation of methodologies for genome sequencing and mutation calling.

Main Results:

  • Benchmarking efforts provide standardized resources for validation.
  • Availability of reference samples aids in assessing sequencing and calling performance.
  • These resources contribute to improved accuracy in identifying germline and somatic mutations.

Conclusions:

  • Standardized reference datasets and samples are essential for advancing genomic analysis.
  • Continued development and utilization of benchmarking efforts will improve genome sequencing and mutation calling.
  • Enhanced accuracy in mutation detection has significant implications for clinical genetics and personalized medicine.