ResourceClinical Diagnostics
Benign or Pathogenic? Assessing Genetic Variants Using “Precision Humanization” of Small Animal Models
27 Sept 2017Genome data reveals many genes suspected for involvement in a patient’s disease contain high loads of VUS alleles. These are the clinical variants in patient DNA that are suspected to alter gene function and cause disease. Yet, many of these variations may actually be benign and harmless. To the physician’s chagrin, the presence of VUS alleles in a patient population clouds the ability of the clinical geneticist to make clear diagnostic recommendations. This whitepaper discusses the investigation of clinical variants by installing them in small animals for genetic screening.
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Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.Clinical MicrobiologyMicrobiology is the study of microorganisms including protists, prokaryotes, fungi, and, often, viruses. Microorganisms are a useful research tool as genetic vectors and, in immunology, for antibiotic susceptibility testing, cellular biology and genetics. Microorganisms commonly grow readily in incubators with microbial culture media; this can contain chromogenic supplements to differentiate between cell lines. Estimate your culture’s density of microorganisms with colony counters, or screen and select colonies for desirable clones with automated colony pickers. Additionally, equipment is available to monitor environments for the presence of microbes and identify with microbial identification instruments. Find the best microbiology products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Animal ModelsThe use of non-human animals in experiments or behavorial observations. The research is conducted inside universities, medical schools, pharmaceutical companies, farms, defence establishments, and commercial facilities that provide animal-testing services to industry. It includes pure research such as genetics, developmental biology, behavioral studies, as well as applied research such as pharmaceutical testing in pre-clinical, before human, studies. Animal ModelsScreeningUsing robotics, data processing and control software, liquid handling devices and sensitive detectors, screening allows a researcher to quickly conduct millions of chemical, genetic or pharmacological tests.Phenotypic ScreeningPhenotypic screening assesses cellular responses to compounds, enabling drug discovery and target identification. This technique is pivotal in finding effective treatments for complex diseases. Discover phenotypic screening platforms and tools with peer-reviewed comparisons and pricing in our directory.