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Related Concept Videos

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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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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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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Sanger Sequencing01:57

Sanger Sequencing

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...
Next-generation Sequencing03:00

Next-generation Sequencing

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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Related Experiment Video

Updated: May 10, 2026

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies
12:08

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies

Published on: August 20, 2021

Exact algorithms for haplotype assembly from whole-genome sequence data.

Zhi-Zhong Chen1, Fei Deng, Lusheng Wang

  • 1Division of Information System Design, Tokyo Denki University, Saitama, Japan. zzchen@mail.dendai.ac.jp

Bioinformatics (Oxford, England)
|June 21, 2013
PubMed
Summary
This summary is machine-generated.

This study presents a new computational approach for accurate haplotype assembly, achieving optimal solutions for genetic data. The method efficiently handles complex datasets, improving gene disease diagnoses and ancestry inference.

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Collection and Extraction of Saliva DNA for Next Generation Sequencing
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Collection and Extraction of Saliva DNA for Next Generation Sequencing

Published on: August 27, 2014

Related Experiment Videos

Last Updated: May 10, 2026

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies
12:08

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies

Published on: August 20, 2021

Collection and Extraction of Saliva DNA for Next Generation Sequencing
06:58

Collection and Extraction of Saliva DNA for Next Generation Sequencing

Published on: August 27, 2014

Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Haplotypes are critical for genetic analysis, including disease diagnosis and ancestry inference.
  • DNA sequencing enables haplotype assembly from individual genetic reads.
  • Existing exact algorithms for haplotype assembly are computationally intensive or fail to find optimal solutions.

Purpose of the Study:

  • To develop an exact algorithm for optimal haplotype assembly under the minimum-error-correction (MEC) model.
  • To address limitations of previous methods, particularly the all-heterozygous site assumption.

Main Methods:

  • Decomposition of the read matrix into smaller, independent blocks.
  • Modeling each block as an integer linear programming problem.
  • Solving the problem using an integer linear programming solver.

Main Results:

  • Achieved optimal solutions for the HuRef dataset within 31 hours (with the all-heterozygous assumption).
  • Successfully solved most of the HuRef dataset in the general MEC case (without the all-heterozygous assumption) within 12 days.
  • Demonstrated that the general MEC model can yield significantly smaller error costs than the all-heterozygous model.

Conclusions:

  • The developed approach provides the first complete optimal solutions for the filtered HuRef dataset.
  • The findings highlight the importance of considering non-heterozygous sites for accurate haplotype assembly.
  • The method offers a significant advancement in computational tools for genetic analysis.