Core Resources : Genotyping Core
Genotyping Core
Contact: Ioanna Konidari ikonidari@med.miami.edu
Genotyping is the process of determining genetic variations of everything from a microorganism to a human being by examining their DNA sequences. There are a number of new, cutting-edge technologies used in genotyping at the John P. Hussman Institute for Human Genomics (HIHG), and a variety of different methods.
The most common type of variations that researchers typically search for is Single Nucleotide Polymorphisms (SNPs, pronounced “snips”). Basically, SNPs are single-base differences at a specific locus on a genome that is found in more than 1 percent of the population. SNPs are found in both coding and non-coding regions of the genome. The SNP variations in a DNA sequence can have a major impact on how humans respond to disease, environmental factors such as bacteria, viruses, toxins, and chemicals; and drugs and other therapies.
This makes SNPs extremely valuable for biomedical research and for tools to diagnose and ultimately cure some diseases and conditions. SNPs also don’t change much from generation to generation, making them easier to follow in population studies.
The HIHG’s genotyping facility is located in the Biomedical Research Building (BRB) and is part of the Institute’s Center for Genomic Technology (CGT). It features a number of genotyping platforms ranging from low, and medium to high throughput. The choice of platform depends on the number of samples and single nucleotide polymorphism (SNP) or other loci to be interrogated.
Its resources include:
• Two Illumina BeadArray Readers
• Two Illumina iScan Systems
• One ABI OpenArray Instrument
• One Sequenom MassARRAY System
• One ABI Prism 7900HT Sequence Detection System (Genotyping & Gene Expression)
• Two Affymetrix GeneChip Scanner 3000 Systems with two additional GeneChip Fluidics Station 450s (Genotyping & Gene Expression)
• Biorepository Core