Related Experiment Video
Updated: Apr 23, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Important role of single nucleotide polymorphisms in the study of complex diseases]
1State Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China.
Abstract:
Single nucleotide polymorphisms (SNPs) have been very widely used in the study of diseases and characters since the completion of the Human Genome Project. SNPs are mostly used as mere genetic markers in studying complex disease. Geneticists began to focus on the direct relationship between SNPs and complex diseases after the "Encyclopedia Of DNA Elements Project". SNPs can pay a regulative role alone, while the collected SNPs in genome can significantly affect the biological characters and disease development.
More Related Videos
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenomics: Identification of New Drug Targets