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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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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 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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Rapid Amplification of cDNA Ends, or RACE, is one of the most effective methods to obtain a full-length cDNA from an mRNA sequence between a known internal region to the unknown sequence at the 5’ or 3’ end. The unknown region is cloned in the cDNA by a gene-specific primer that binds the known end, and a hybrid primer that attaches a predefined anchor sequence to the unknown end of the cDNA. The sequence in between is amplified by PCR with an anchor primer and a gene-specific...
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GAAP: A GUI-based Genome Assembly and Annotation Package.

Deepak Singla1, Inderjit Singh Yadav1

  • 1School of Agricultural Biotechnology, Punjab Agricultural University, Ludhiana, India.

Current Genomics
|February 13, 2023
PubMed
Summary
This summary is machine-generated.

Genome Assembly and Annotation software (GAAP) provides a free, user-friendly solution for analyzing next-generation sequencing data. This platform-independent tool automates genome assembly and gene prediction, addressing a gap in current bioinformatics software.

Keywords:
GUINGSannotationgene predictiongenome assemblysoftware

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Area of Science:

  • Bioinformatics
  • Genomics
  • Computational Biology

Background:

  • Next-generation sequencing (NGS) generates vast amounts of data requiring efficient analysis tools.
  • Existing GUI-based software for NGS data analysis is often commercial, creating accessibility barriers.
  • There is a need for freely available, integrated software for comprehensive genome analysis.

Purpose of the Study:

  • To develop a user-friendly, platform-independent software for genome assembly and annotation.
  • To provide an integrated solution for the entire NGS data analysis pipeline.
  • To address the gap in accessible bioinformatics tools for researchers.

Main Methods:

  • Developed Genome Assembly and Annotation software (GAAP) using NodeJS, HTML, and JavaScript.
  • Integrated tools for quality control (FastQC, Trimmomatic), genome assembly (Velvet), and gene prediction (Prodigal).
  • Utilized remote NCBI Blast and IPR-Scan for gene annotation, with PERL and JavaScript for backend processing.

Main Results:

  • GAAP successfully assembled and annotated viral, bacterial, and human genomes.
  • A COVID-19 genome was assembled into a single contig with high reference coverage, predicting 11 genes.
  • Bacterial and human genomes were assembled with significant contig numbers and N50 values.

Conclusions:

  • GAAP is a freely available, comprehensive software package for genome assembly and annotation.
  • The software offers a complete data analysis solution, including quality checks, assembly, and annotation.
  • GAAP facilitates accessible and efficient analysis of NGS data for diverse genomic applications.