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Genomics
The study of genes and their functions
Transcriptomics
The study of gene expression
Proteomics
Study of all expressed proteins (proteome)
Metabolomics
What is the quantification of multiple chemicals and molecule metabolites to assess metabolic function and disease indication?
Genome
The entire DNA sequence of a particular species
DNA Sequencing
The process of determining the sequence of nucleotide bases in a piece of DNA
Illumina
Type of DNA sequencing that simultaneously identifies different bases by their different fluorescent signals
30,000
How many genes are there in human DNA?
3 billion
How many base pairs make up human DNA?
Disease Dx, detect predispositions, gene therapy, “custom drugs”, forensics, paternity testing, organ donor match
What are the benefits of genome research?
Point mutation (A to T)
What type of mutation causes Sickle Cell Disease?
BRCA1 and BRCA2
Inherited mutations in which genes result in increased risk of breast and ovarian cancers?
Limit cell division
What is the function of BRCA1 and BRCA2?
Transcriptome
What is the set of all mRNA transcripts produced by a cell?
Conversion of mRNA into cDNA to be sequenced into the cDNA library
How is RNA sequencing performed?
False positives, inconsistent results with different strains, needed enzymes may reach Vmax (speed limit)
What are some limitations of RNA sequencing?
Structural proteomics
Discipline that defines the primary, secondary, and tertiary structure of proteins
Discipline that assesses protein function
Functional proteomics
Mass spectrometry
Technique used to identify and quantify unknown compounds in a sample by measuring the mass of molecules within the sample
Ionization of the sample and characterization of those ions by their mass to charge ratios (m/z)
How is mass spectrometry performed?
Dysregulated metabolism is a major contributor to disease metabolomics is used to predict cancer/cardiovascular events.
What are some roles of metabolomics?
Quantitative determination of microbiota that can be correlated with disease.
What is a role of microbiomics?
Periodontitis
Disease caused by a microbial shift and dysbiosis, leading to an overgrowth of potentially pathogenic microbiota
Shotgun metagenomics
Technique where all DNA is sequenced in a sample, distinguishing genetically close species
Bioinformatics
Discipline that makes sense and predictions from genomic, proteomic, metabolomic, etc. data