High-throughput Genotyping

High-throughput genotyping is the parallel analysis of genetic variants across many samples, enabling researchers to characterize inherited differences efficiently and at large scale. These workflows detect known markers, such as single-nucleotide polymorphisms, using methods including multiplex PCR, SNP arrays, or next-generation sequencing, followed by automated signal processing and genotype calling. In genetics, high-throughput genotyping supports genome-wide association studies, population analysis, linkage mapping, breeding programs, and disease-risk research. By increasing sample capacity while reducing per-sample time and cost, it helps reveal relationships between genetic variation and observable traits, guiding biological discovery and precision research.

High-throughput Genotyping - Related Videos

Research

JoVE Journal - Biology
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qPCRTag Analysis - A High Throughput, Real Time PCR Assay for Sc2.0 Genotyping

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Cited by 18 •

2015

Designer chromosomes of the Synthetic Yeast Genome project, Sc2.0, can be distinguished from their native counterparts using a PCR-based genotyping assay called PCRTagging, which has a presence/absence endpoint. Here we describe a high-throughput real time PCR detection method for PCRTag genotyping.

Education

JoVE Science Education - Basic Biology

Mouse Genotyping

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2023

Even though the human genome was mapped over 10 years ago, scientists are still far from understanding the function of every human gene! One way to evaluate how a gene functions is to disrupt the sequence encoding it and then evaluate the impact of this change (the phenotype) on the animal’s biology. This approach is commonly used in the mouse (Mus musculus), since it shares a high degree of genetic similarity with humans. To track the animals bearing genetic changes over several generations,...

Using a Fluorescent PCR-capillary Gel Electrophoresis Technique to Genotype CRISPR/Cas9-mediated Knockout Mutants in a High-throughput Format

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Cited by 6 •

2017

The genotyping technique described here, which couples fluorescent polymerase chain reaction (PCR) to capillary gel electrophoresis, allows for high-throughput genotyping of nuclease-mediated knockout clones. It circumvents limitations faced by other genotyping techniques and is more cost effective than sequencing methods.

SNP Genotyping

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2023

Single nucleotide polymorphisms, or SNPs, are the most common form of genetic variation in humans. These differences at individual bases in the DNA often do not directly affect gene expression, but in many cases can still be useful for locating disease-associated genes or for diagnosing patients. Numerous methodologies have been established to identify, or “genotype”, SNPs.JoVE’s introduction to SNP Genotyping begins by discussing what SNPs are and how they can be used to identify...

Research

JoVE Journal - Biology
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Ice-Cap: A Method for Growing Arabidopsis and Tomato Plants in 96-well Plates for High-Throughput Genotyping

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Cited by 4 •

2011

The Ice-Cap method allows one to grow plants in 96-well plates and non-destructively harvest root tissue from each seedling. DNA extracted from this root tissue can be used for genotyping reactions. We have found that Ice-Cap works well for Arabidopsis thaliana, tomato, and rice seedlings.

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