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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.
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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.
GWAS does not require the identification of the target gene involved in...

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Updated: Jun 12, 2026

Informatic Analysis of Sequence Data from Batch Yeast 2-Hybrid Screens
09:14

Informatic Analysis of Sequence Data from Batch Yeast 2-Hybrid Screens

Published on: June 28, 2018

HapAssembler: a web server for haplotype assembly from SNP fragments using genetic algorithm.

Seung-Ho Kang1, In-Seon Jeong, Hwan-Gue Cho

  • 1School of Electronics & Computer Engineering, Chonnam National University, 77 Yongbong-ro, Buk-gu, Gwangju 500-757, Republic of Korea.

Biochemical and Biophysical Research Communications
|June 1, 2010
PubMed
Summary
This summary is machine-generated.

Haplotype assembly from SNP fragments is challenging due to sequencing limitations. HapAssembler, a new web tool using genetic algorithms, accurately determines haplotypes from SNP data, achieving over 95% accuracy.

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

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Last Updated: Jun 12, 2026

Informatic Analysis of Sequence Data from Batch Yeast 2-Hybrid Screens
09:14

Informatic Analysis of Sequence Data from Batch Yeast 2-Hybrid Screens

Published on: June 28, 2018

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Area of Science:

  • Genomics
  • Computational Biology
  • Bioinformatics

Background:

  • Haplotypes, sequences of SNPs on a chromosome, are crucial for disease association studies.
  • Current sequencing methods identify SNPs but cannot assign them to specific chromosome copies.
  • Sequencing errors further complicate accurate haplotype determination from SNP fragments.

Purpose of the Study:

  • To address the challenge of haplotype assembly from SNP fragments.
  • To develop a freely available, web-based tool for haplotype determination.
  • To provide a computational solution for reconstructing haplotypes.

Main Methods:

  • The study defines the haplotype assembly problem computationally.
  • A web-based application, HapAssembler, is developed.
  • HapAssembler utilizes a genetic algorithm for haplotype reconstruction.

Main Results:

  • HapAssembler demonstrates high accuracy, exceeding 95% in most cases on real biological data.
  • The application is freely accessible online.
  • Users can select from four different models within HapAssembler.

Conclusions:

  • HapAssembler effectively overcomes limitations in current sequencing techniques for haplotype assembly.
  • The tool provides a reliable and accurate method for determining haplotypes from SNP fragments.
  • This web-based application facilitates research in disease association studies by enabling accurate haplotype reconstruction.