From the Human Genome to the Microbiome: Major Bioinformatics Milestones
Introduction
Bioinformatics is an interdisciplinary field that involves several areas associated with biological sciences, computer science, statistics, etc., to analyze and interpret complex biological data.
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Recently, bioinformatics has emerged as one of the most significant disciplines in medicine and modern biology, particularly with the emergence of novel data generation technologies, including genomic sequencing.
The Role of Bioinformatics
Bioinformatics plays a pivotal role in several clinical applications and research areas:
- Omics: Includes disciplines that deal with the study of several biological components on a large scale such as:
- Genomics: Studies associated with the entire genome, including genes and the functions of genes
- Transcriptomics: Involves analysis of sets of RNA transcripts
- Proteomics: Deals with investigating protein sets expressed in an organism or a cell
- Metabolomics: Includes studying metabolic processes and the molecules involved
- Lipidomics: Emphasis on cellular lipids and their functions in biological processes.
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- Applications In Medicine
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- The analysis of multi-omics data can help with the identification of biomarkers related to various diseases facilitating improved diagnosis
- Omics data can significantly help with the investigation of drug targets based on interactions between molecules that can be revealed through bioinformatics tools
Evolution and Advancements in Bioinformatics
The term ‘Bioinformatics’ was used for the first time by Paulien Hogeweg and Ben Hesper in the 1970s who defined bioinformatics as “the study of informatic processes in biotic systems.” According to some sources the origins of the term are believed to be in the publications from 1978 however, Hogeweg and Hesper were using it as early as in 1970 in a Dutch article that is not widely accessible.
Margaret Dayhoff played a significant role with the creation of the first comprehensive database of protein sequences called the Atlas of Protein Sequences, laying the foundation for future databases. Further, post-1970s a few notable advancements include the emergence of the Protein Data Bank (PDB), which showed X-ray crystallographic structures of proteins, and GenBank marking the commencement of databases involving DNA sequences.
Top projects that have significantly impacted the field of Bioinformatics
1. The Human Genome Project
The Human Genome Project (HGP) is a major milestone in the field and is believed to be the biggest international collaboration in the history of biological sciences that brought together researchers from the UK, US, France, Germany, China and Japan
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- The project aimed at sequencing the entire human genome which took nearly 13 years to complete, launching in 1990 and completing in 2003.
- The fragmented human genome was cloned into bacterial artificial chromosomes (BACs) and a contiguous map of overlapping fragments was created. These fragments were then sequenced using Sanger sequencing. The entire sequence of more than 3 billion base pairs was completed in April 2003.
- The project provided invaluable insights into the human blueprint, accelerating the study of human biology, and improving the practice of medicine.
2. The 1000 Genomes Project
The 1000 Genomes project was another important research milestone that aimed at cataloguing human genetic variation.
- The project went on from 2008 till 2015
- It aimed at investigating the majority of known genetic variants, such as single nucleotide polymorphisms (SNPs), small deletions/insertions and copy number variations (CNVs) that could be potentially associated with common diseases
- The study analysed genomes of 2,504 people from diverse ethnic backgrounds.
- The project provided crucial insights into population genetics, distribution of genetic variation across diverse populations and susceptibility to diseases.
3. The Human Microbiome Project (HMP)
The Human Microbiome Project (HMP) was launched by the National Institutes of Health (NIH) and aimed at investigating diverse communities of microbes inhabiting human bodies.
- The project aimed at cataloguing diverse species of microbes with an estimation that each individual carried around 1000 species.
- The genetic data of over 14 terabytes was generated from the HMP, which included human-associated microbes and provided an understanding of the microbial community and its impact on human health.
4. The Cancer Genome Atlas (TCGA)
TCGA is a crucial research initiative in the area of cancer genomics and has significantly influenced our understanding of the molecular mechanisms of cancer.
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- The project aimed at cataloguing genomic alterations that are responsible for cancer through extensive genome sequencing and bioinformatics analysis.
- The project generated a vast amount of data including epigenomic, proteomic and transcriptomic data adding up to 2.5 petabytes of extensive information which is publicly available via Genomic Data Commons (GDC)
Conclusion
The field of Bioinformatics has emerged as an essential discipline in medicine and modern biology. The progress achieved through several studies and projects has laid the foundation for further research influencing our understanding of genetics and disease mechanisms.
With more advancements to come, bioinformatics will play a vital role in impacting the future of medicine, from personalized treatments to many other groundbreaking breakthroughs.Â
