BIOINFORMATICS Flashcards
Bioinformatics
Use of Computer science, tech & different software tools to anaylze data & make future predictions.
Omics
The study of different fields within Biology
Genomics
The complete study of the genome.
The study of the entire genome within an organism and it’s interactions with each other including the environment
Transcriptomics
The study of RNA molecules in the cell, which contain information to make proteins.
The study of all RNA molecules in a cell.
RNA is copied from pieces of DNA that contains information to make proteins and perform other important functions.
Proteomics
The study of all the proteins that get expressed within our body.
Because Proteomics are so close to the phenotype we can have a much deeper / better understanding on human health and disease.
Proteins - act as enzyme in the cells and signaling molecules between cells
So they are directly transmitting information to the Phenotype.
Example: We can have a more inside view of why disease react the way that they do.
Example: Can identify and monitor biomarkers by analyzing the proteins in the body fluids such as urine, serum, exhaled breath and spinal fluid.
Proteomics can also facilitate drug development by providing a comprehensive map of protein interactions associated with disease pathways
Protemos types can include:
Liver cell types
Kidney cell types
Brain cell types
Metebolomics
The study of metabolites within the cells, biofluids, tissues and organisms.
Due to the interaction within the biological system, it can help find early detection of disease such as:
Alzheimer’s,
it can help with inflammation,
And provide diet strategies.
Helps identify viruses, bacteria and fungus that could be found on the human skin.
Large scale study of small molecules / metabolites found within cells, biofluids, tissues or organisms.
Best represent the molecular phenotype.
Metagenomics
The study of the genetic analysis from genomes contained directly from the environment.
Analysis microorganism, which are found in bacteria, virus and fungus.
Microbial / Microorganism - small organism found within the environment in which you need a microscope to analyze.
Able to identify the bacteria found within the genome.
Provides information on characteristics that cause diseases. (Microbial)
Epigenomics
The study of how your behaviors and environment can cause on how your genes work.
Genomics vs Transcriptomics
Genomics reveals what genes are present, while transcriptomics shows how active genes are in different cells.
Genotype
the genetic makeup of an individual organism.
Phenotype
The characteristics in an individual resulting from the expression of genes.
Example:
Height
Eye Color
Hair
DNA
A molecule that carries genetic information for the development & function of an organism.
Organism
The material structure of an individual life form.
Cell
Building blocks of all living things.
Provide structure to the body.
Human Body has over 3 trillion cells.
Cells take in nutrients from foods, and convert it into energy.
Mutation
Change in DNA, in which one or more nucleotides are:
Inserted, Deleted or Substituted with another gene.
Not all Mutations are bad and lead to cancer.
Some Mutations can happen when there are environment changes.
Non Coding DNA
Majority of our DNA do not code for Protein
Enzyme
Is a protein that speeds up the rate of a chemical reaction.
They help with:
breathing
digesting food
muscle and nerve function
NGS (next generation sequencing)
Sequencing technology used to determine the order of DNA in the entire genomes and or target regions between DNA or RNA.
NGS:
Rapidly sequence entire genomes.
Identity RNA variants
Study rare cancer & tumor variants.
RNA
Creates proteins through translation as well as carry genetic information to the cell.
Creates proteins by translation.
It carries genetic information that is translated by ribosomes into various proteins necessary for cellular processes.
DNA Base Pairs
- Adenine (A)
- Cytosine (C)
- Guanine (G)
- Thymine (T)
Base Pairs:
AT
GC
Exome Sequencing
Sequencing the genetic protein region of the genome to understand what may cause symptoms and disease.
It can also identify variants and cancer studies.
Whole Genome Sequencing (WGS)
Sequencing the entire genome (3.2 billion base pairs) in a human
Target Genome Sequencing (TGS)
Targets a certain area in the genome that allows researchers to find rare variants.
Biomarker
A biological process that measures normal or abnormal elements within ones body like, diseases, treatments and medication.
EXAMPLE:
If we are testing blood pressure our marker would indicate what the likely hood is on having a stroke.
If we test for antibodies within the blood, we can indicate a particular disease or infection.
Whole Genome Sequencing (WGS)
WGS = 6B x 30x
3.2 billion base pair of DNA
WGS reads every single letter in your genome (6 billion)
30 x.
Gives more accurate, in depth analysis of your genetic makeup and more insight to possible variants and disease.
Polynucleotide
The physical structure of DNA.
A sequence of Nucleotide molecules.
Nucleotide
Organic molecules consisting of a nucleoside and a phosphate.
4 Nucleobases
Adenine (A), - “ada-neen”
Thymine (T), - “thigh’meen”
Cytosine (C), - “sight - a- seen”
Guanine (G), - “gwaa - neen”
DNA Sequencing Pairs
AT & CG
Base Pair
Nucleotides x Double Helix
DNA molecules
Store biological information that determines the composition, function and reproduction of an organism.
Sugar Molecule
Deoxyribose
Chromosome
A structure that consist of proteins and DNA found in the nucleus of a cell.
Molecule
A group of atoms bonded together, representing the smallest fundamental unit of a chemical compound that can take part in a chemical reaction
Ploidy
The number of complete sets of chromosomes in a cell.
Humans have two sets of chromosomes in each cell.
One set from each parent.
Whole Exome Sequencing
Focuses on the protein coding genes.
Non Code Sequences
98% of our genes do not code for protein.
Non code sequences are essential for regulating gene expression.
