Bioinformatics in Genome Sequencing Projects


Genome sequencing and analysis is a field that has evolved very rapidly over the 10 years since a final draft of the human genome sequence was published in 2003. From obtaining a full genome sequence from a representative individual or strain of a small number of species, the genomics community has moved to documenting genetic diversity within species, with an emphasis on humans, and more generally by sequencing the genomes of a rapidly growing number of species. The advent of low‐cost, very high throughput sequencing techniques has also made it possible to sample transcriptomes (the part of the genome transcribed into ribonucleic acid), genomic regions bound by proteins, bacterial communities, or even entire ecosystems, using sequencing approaches. This has spawned a new generation of software tools designed to handle the very large numbers of short sequences, commonly referred to as reads, produced by the new machines, and has also propelled the field of computational genomics into the realm of Big Data that require large and sophisticated computer systems for their management and analysis.

Key Concepts:

  • Rapidly evolving sequencing technologies have revolutionised the analysis of genomes.

  • The management and analysis of billions of short sequence reads requires specialised software and access to high‐end computer hardware.

  • Clusters of commodity servers are the preferred infrastructure for genome sequencing projects, but machines with large amounts of memory are required for assembly.

  • Cloud computing is expected to have a big impact on the field, but issues of data transfer are not fully resolved.

  • Large distributed resources supporting a Map/Reduce programming paradigm and distributed storage, such as Apache Hadoop, will probably become standard.

Keywords: computer infrastructure; hardware; networking; processors; software; genome projects; genome sequencing


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Web Links

Amazon Web services.

Apache Hadoop.

Broad Institute.


European Bioinformatics Institute.

HIPAA privacy rules.

National Center for Biotechnology Information (NCBI).

SeqAnswers list of bioinformatics software.

UCSC Genome viewer.

Wellcome Trust Sanger Institute.

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How to Cite close
Jongeneel, Cornelis Victor(Mar 2014) Bioinformatics in Genome Sequencing Projects. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005311.pub3]