Genome Wide Association Studies (GWAS)

Download pdf version. What it is: An approach to find novel genetic markers of disease Genome-Wide Association Studies (GWAS) are a tool that biomedical researchers use to find potential links between genetics and disease. Imagine a disease for which no clear cause is known (for example, Parkinson). Researchers will read parts of the genome that [...]

DNA fingerprinting

Download pdf version. What it is: Using DNA variation to identify individuals Like your fingerprints, your DNA is unique to you, doesn’t change throughout your lifetime, and whether you intend it or not, is often left behind wherever you go. DNA fingerprinting is a method for finding unique patterns in a person’s DNA and using [...]

Quantitative Polymerase Chain Reaction (qPCR)

Download pdf version. What it is: Monitoring how many copies of DNA are produced by PCR If you go to the finish line of a race after the race is over, there is some information you can learn, but some you cannot. You can tell who ran the race, but not who won; the winners [...]

Loop-mediated isothermal amplification (LAMP)

Download pdf version. What it is: DNA amplification without thermal cycling For over 30 years, the gold standard for detecting DNA and other nucleic acids has been PCR (the Polymerase Chain Reaction). In PCR, an enzyme called DNA polymerase makes exponential copies of a target DNA molecule. Much of modern biology and medicine depends on [...]

The Human Genome Project

Download pdf version. What it is: The initiative that sequenced the entire human genome The Human Genome Project (HGP) is widely recognized as a tremendous success of government initiative and international collaboration.Launched by the United States government in 1990 with the goal of sequencing the entire human genome, the scale of this project was enormous; it [...]

DNA barcoding

Download pdf version. What it is: A DNA-based method for recognizing species Imagine getting bitten by a spider, but being unable to tell what kind of spider it was (poisonous or not?!). To help organize our understanding of the diversity of species in the living world, Carl Linneaus invented a system for naming and classifying [...]

Human microbiome

Download pdf version. What it is: A collection of living organisms in the human body When you look at yourself in the mirror you probably think you are looking at just a single living organism. In fact, you are looking at you and between ten and one hundred trillion microbes, microscopic organisms living in and [...]

CRISPR/Cas-9

Download pdf version. What it is: Naturally occurring adaptive immunity in bacteria The CRISPR/Cas-9 system is how bacterial immune systems learn from past experience. Bacteria use CRISPR to remember viral invaders so that Cas9 can attack them the next time they pose a threat. Bacteria can do this by specifically recognizing the invader’s DNA and [...]

Next Generation Sequencing (NGS)

Download pdf version. What it is: Reading genetic material faster and cheaper Sequencing DNA is reading the string of “letters” in the genetic code: the bases A, C, G, and T. Since the 1980s we’ve used Sanger sequencing to read up to 1,000 bases of DNA at a time. We still use Sanger sequencing today, [...]

Epigenetics

Download pdf version. What it is: Gene regulation that “learns from experience” Often when you’re reading something that you know you’ll have to read again later, you highlight or cross out passages so the next time you can read it more efficiently. Your cells do something similar to DNA. Signals are put on DNA based [...]