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BIOINFORMATICS. Ayesha Masrur Khan Spring 2013. Bioinformatics A complete understanding of the term. The National Centre for Biotechnology Information (NCBI 2001) defines bioinformatics as:

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Ayesha MasrurKhan

Spring 2013


bioinformatics a complete understanding of the term
BioinformaticsA complete understanding of the term

The National Centre for Biotechnology Information (NCBI 2001) defines bioinformatics as:

"Bioinformatics is the field of science in which biology, computer science, and information technology merge into a single discipline. There are three important sub-disciplines within bioinformatics: the development of new algorithms and statistics with which to assess relationships among members of large data sets; the analysis and interpretation of various types of data including nucleotide and amino acid sequences, protein domains, and protein structures; and the development and implementation of tools that enable efficient access and management of different types of information."


bioinformatics aim
  • It is not just “informatics”
  • Bioinformatics is the field of science in which biology, computer science, mathematics and information technology merge into a single discipline. The ultimate goal of the field is to enable the discovery of new biological insights as well as to create a global perspective from which unifying principles in biology can be discerned.
  • We want to be able to understand the words in a sequence sentence that form a particular protein structure, and one day to be able to write sentences (design proteins) of our own.
  • Furthermore, this new knowledge could have profound impacts on fields as varied as human health, agriculture, the environment, energy and biotechnology.


bioinformaticists bioinformaticians bioinformatics scientists
Bioinformaticists, Bioinformaticians &Bioinformatics scientists
  • A Bioinformaticist versus a Bioinformatician (1999):
  • Bioinformatics has become a mainstay of genomics, proteomics, and all other *omics (such as phenomics) that many information technology companies have entered the business or are considering entering the business, creating an IT (information technology) and BT (biotechnology) convergence.
  • A bioinformaticist is an expert who not only knows how to use bioinformatics tools, but also knows how to write interfaces for effective use of the tools.
  • A bioinformatician, on the other hand, is a trained individual who only knows how to use bioinformatics tools without a deeper understanding.


bioinformaticists bioinformaticians bioinformatics scientists1
Bioinformaticists, Bioinformaticians &Bioinformatics scientists
  • There are bioinformaticists interested in the theory behind the manipulation of that data and there are bioinformatics scientists concerned with the data itself and its biological implications.


challenges facing the bioinformatics community
Challenges facing the bioinformatics community

Mass of Data

- Need to provide easy and reliable access to this data

  • This data itself is meaningless before analysis and the sheer volume present makes it impossible for even a trained biologist to begin to interpret it manually
  • Incisive computer tools must be developed to allow the extraction of meaningful biological information



Earliest Efforts in Bioinformatics

  • Bioinformatics started over a century ago by Gregor Mendel, known as Father of Genetics Genetic record keeping
  • He cross-fertilized different colors of the same species of flowers and kept careful records of the colors of flowers that he cross-fertilized and the color(s) of flowers they produced.
  • Mendel illustrated that the inheritance of traits could be more easily explained if it was controlled by factors passed down from generation to generation.


terms that need to be understood
Terms that need to be understood
  • Homology-denotes an absolute divergent relationship between sequences.
  • Analogy-can denote, based on similar folds or catalytic residues similarity, either divergent or convergent relationship.
  • Orthology-Proteins that perform same functions in different species.
  • Paralogy-Proteins that perform different but related functions within on organism.


origin of bioinformatic biological databases
Origin of bioinformatic/biological databases
  • The first bioinformatic/biological databases were constructed a few years after the first protein sequences began to become available.
  • The first protein sequence reported was that of bovine insulin in 1956, consisting of 51 residues.
  • Nearly a decade later, the first nucleic acid sequence was reported, that of yeast alaninetRNA with 77 bases
  • Just a year later, Dayhoff gathered all the available sequence data to create the first bioinformatic database.
  • The Protein Data Bank followed in 1972 with a collection of ten X-ray crystallographic protein structures
  • SWISSPROT protein sequence database began in 1987.


types of data available
Types of data available

Enormous amounts of data available publicly

– DNA/RNA sequence

– SNPs

– protein sequence

– protein structure

– protein function

– organism‐specific databases

– genomes

– gene expression

– biomolecular interactions

– molecular pathways

– scientific literature

– disease information


three central biological processes around which bioinformatics tools must be developed
Three Central biological processes around which bioinformatics tools must be developed:
  • DNA sequence determines protein sequence
  • Protein sequence determines protein structure
  • Protein structure determines protein function