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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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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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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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Targeted DNA Methylation Analysis by Next-generation Sequencing
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JVM: Java Visual Mapping tool for next generation sequencing read.

Ye Yang1, Juan Liu

  • 1School of Computer, Wuhan University, Wuhan, 430072, Hubei, China.

Advances in Experimental Medicine and Biology
|November 13, 2014
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Summary
This summary is machine-generated.

We created Java Visual Mapping (JVM), a Java program for aligning next-generation sequencing reads to reference genomes. This tool efficiently handles millions of short reads from Illumina sequencing, supporting DNA-Seq and RNA-Seq applications.

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Area of Science:

  • Bioinformatics
  • Computational Biology
  • Genomics

Background:

  • Next-generation sequencing (NGS) technologies generate vast amounts of short DNA reads.
  • Accurate and efficient mapping of these reads to a reference genome is crucial for genomic analysis.
  • Existing alignment tools may face challenges with large datasets and specific sequencing technologies.

Purpose of the Study:

  • To develop a novel Java-based program, Java Visual Mapping (JVM), for high-throughput sequence read mapping.
  • To provide an efficient solution for aligning millions of short reads generated by Illumina sequencing technology.
  • To support DNA sequencing (DNA-Seq) and RNA sequencing (RNA-Seq) applications, particularly for single-end resequencing.

Main Methods:

  • Implementation of the JVM program in Java.
  • Utilizing a seed-and-extend strategy for sequence alignment.
  • Employing octal encoding operations to optimize alignment performance.
  • Designing JVM as a desktop application with support for read data ranging from 1 MB to 10 GB.

Main Results:

  • Successful development of the Java Visual Mapping (JVM) program.
  • Demonstrated capability to handle millions of short reads from Illumina sequencing.
  • Efficient sequence alignment using seed index and octal encoding techniques.
  • JVM supports large read capacities, from 1 MB to 10 GB.

Conclusions:

  • Java Visual Mapping (JVM) provides an effective solution for mapping next-generation sequencing reads.
  • The program is well-suited for DNA-Seq and RNA-Seq resequencing projects involving large datasets.
  • JVM's design facilitates efficient alignment of short reads, contributing to genomic data analysis.