Sequencing Projects
This lesson covers:
- Computational biology, bioinformatics, and genomics
- Analysing genomes to study human health and disease
- Studying evolutionary relationships through genome comparison
- The relationship between genomics and proteomics
Computational biology, bioinformatics, and genomics
Advances in sequencing technology have produced vast amounts of biological data. Computational biology and bioinformatics are essential for analysing these data.
These key fields are:
- Bioinformatics - This involves developing software, computing tools, and mathematical models to collect, store, and analyse biological datasets like the nucleotide sequences of genes and genomes, as well as amino acid sequences of proteins.
- Computational biology - This field uses bioinformatics tools and biological data to model biological systems and processes.
- Genomics - This applies DNA sequencing and computational biology to study the genomes of organisms.
Studying human health and disease through genome analysis
Sequencing thousands of human genomes has made it possible to identify patterns in our DNA and disease risks.
This process often involves whole-genome shotgun (WGS) sequencing:
- DNA is cut into fragments.
- DNA fragments are sequenced.
- DNA fragments are aligned to determine the whole DNA sequence.
Single nucleotide polymorphisms (SNPs), which are single-base variations in the genome, can be identified through this process and are associated with diseases and disorders.
Bioinformatics databases offer health professionals information about mutations that may cause genetic disorders. However, it's important to remember that most diseases result from the interaction between genes and the environment.
Comparing genomes using DNA barcoding
DNA barcoding involves comparing the DNA sequence of an unidentified organism to a database of standard ‘barcode’ sequences for known species. This means researchers can find similarities between new DNA sequences and those already in databases. This indicates common ancestry and allows scientists to build evolutionary trees with greater accuracy.
DNA barcoding offers advantages such as:
- Fast and affordable sequencing.
- The classification of new species.
- Updating of classifications.
- Estimating evolutionary divergence times based on predictable DNA mutation rates to construct evolutionary trees.
Genomics, proteomics, and the genotype-phenotype relationship
Genomics is the study of genomes, using DNA sequencing and computational biology to analyse data like base pairs in DNA, protein structures, and gene regulation.
Proteomics examines the complete set of proteins produced by the genome (the proteome), including their structure and function.
The number of unique proteins can greatly exceed the number of genes, underscoring the complexity of the genotype-phenotype relationship. Processes such as alternative mRNA splicing and post-translational modification of proteins can lead to multiple proteins being produced from a single gene.