Genetic Screening
Genetic Screening - Related Videos
08:50
Genetic Screens
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2023
Genetic screens are critical tools for defining gene function and understanding gene interactions. Screens typically involve mutating genes and then assessing the affected organisms for phenotypes of interest. The process can be “forward”, where mutations are generated randomly to identify unknown genes responsible for the phenotypes, or it can be “reverse”, where specific genes are targeted for mutation to observe what phenotypes are produced.Here, JoVE reviews various types of genetic...
02:46
Genetic Screens
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2021
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options. Forward genetic screens Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
08:10
Multi-enzyme Screening Using a High-throughput Genetic Enzyme Screening System
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Cited by 7 •
2016
This work presents a method of high-throughput screening using a universal genetic enzyme screening system that can be theoretically applied to over 200 enzymes. Here, the single screening system identifies three different enzymes (lipase, cellulase, and alkaline phosphatase) by simply changing the substrate used (p-nitrophenyl acetate, p-nitrophenyl-β-D-cellobioside, and phenyl phosphate).
08:17
VIGS-Mediated Forward Genetics Screening for Identification of Genes Involved in Nonhost Resistance
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Cited by 22 •
2013
Virus-induced gene silencing is an useful tool for identifying genes involved in nonhost resistance of plants. We demonstrate the use of bacterial pathogens expressing GFPuv in identifying gene silenced plants susceptible to nonhost pathogens. This approach is easy, fast and facilitates large scale screening and similar protocol can be applied to studying various other plant-microbe interactions.
00:09
Pooled CRISPR-Based Genetic Screens in Mammalian Cells
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Cited by 14 •
2019
CRISPR-Cas9 technology provides an efficient method to precisely edit the mammalian genome in any cell type and represents a novel means to perform genome-wide genetic screens. A detailed protocol discussing the steps required for the successful performance of pooled genome-wide CRISPR-Cas9 screens is provided here.
FAQs
The analysis identifies DNA or chromosomal variants associated with a condition or increased risk, but an association does not by itself show that the person has the condition. Interpretation depends on comparison with established genetic references. Consequently, a screening result can indicate likelihood and may lead to diagnostic testing or other follow-up rather than serve as a final diagnosis.
These approaches differ in how broadly they examine genetic information. Targeted variant analysis focuses on specified variants, genotyping assesses selected genetic differences, and broader sequencing examines a wider DNA sequence. The appropriate scope depends on the screening purpose. This distinction matters because the analysis type influences which variants can be compared with genetic references and reported.
Established genetic references provide the comparison framework for interpreting detected DNA or chromosomal variants. Without that comparison, a laboratory finding would not readily indicate whether it is associated with an inherited condition or increased disease risk. Reference-based interpretation therefore connects the laboratory measurement to the screening result communicated to the person.
A typical workflow begins with collecting blood, saliva, or another biological sample, followed by analysis using targeted variant analysis, genotyping, or broader sequencing. The resulting information is compared with established genetic references, and the finding is interpreted as an indication of likelihood. If appropriate, the result guides follow-up diagnostic testing or care decisions.
It can be used to identify variants associated with inherited conditions in contexts that include carrier testing, prenatal assessment, and newborn assessment. In these settings, the information may support reproductive decisions, follow-up testing, or care planning. Because screening indicates likelihood rather than confirming disease, results require appropriate interpretation before decisions are made.
In cancer-risk evaluation, screening can identify variants associated with increased disease risk rather than confirm that cancer is present. The result may therefore inform preventive care or prompt follow-up diagnostic testing. Its value lies in connecting inherited genetic information with decisions about risk management, while preserving the distinction between risk assessment and diagnosis.
Population studies use screening to examine how genetic variation is distributed and how it relates to health across groups. These investigations can support research into the relationship between inherited variants and disease risk without treating every detected association as a diagnosis. The resulting patterns help researchers study genetic influences on health at a broader biological scale.