DbSNP

Definition

dbSNP (Database of Single Nucleotide Polymorphisms) is a comprehensive public database that catalogs genetic variation in the form of single nucleotide polymorphisms (SNPs) and other minor genetic variants. It serves as an essential resource for researchers in genomics, allowing them to access information on SNP locations, allele frequencies, and associations with diseases. This database plays a critical role in various areas of genetic research, including understanding population genetics, conducting genome-wide association studies, and interpreting genetic variants in rare diseases.

5 Must Know Facts For Your Next Test

1. dbSNP is maintained by the National Center for Biotechnology Information (NCBI) and includes SNPs from numerous organisms, not just humans.
2. The database allows researchers to search for specific SNPs by gene name, chromosome location, or rsID (reference SNP cluster ID).
3. Allele frequency data in dbSNP can help researchers identify which variants are more common in specific populations, aiding in the understanding of population genetics.
4. dbSNP is often used as a reference in GWAS to determine whether identified SNPs are statistically significant in association with diseases.
5. Variants listed in dbSNP can have implications for personalized medicine, as certain SNPs may influence drug response and disease susceptibility.

Review Questions

• How does dbSNP contribute to the design and analysis of genome-wide association studies?
  • dbSNP provides a centralized resource where researchers can find detailed information on SNPs, including their locations and allele frequencies. In genome-wide association studies, this information is crucial for identifying significant associations between specific SNPs and traits or diseases. By using dbSNP, researchers can effectively select which SNPs to include in their studies, helping ensure that they focus on variations that are most relevant to the populations they are studying.
• Discuss the role of dbSNP in variant interpretation for rare diseases and how it aids in identifying potential pathogenic variants.
  • In the context of rare diseases, dbSNP serves as a valuable tool for clinicians and researchers attempting to interpret genetic variants. By providing information on previously characterized SNPs and their known associations with diseases, dbSNP helps assess whether a novel variant may be pathogenic or benign. The ability to compare new findings with an extensive database enables more accurate diagnoses and better understanding of genetic conditions.
• Evaluate how the features of dbSNP enhance our understanding of human genetic diversity and its implications for health.
  • dbSNP's extensive cataloging of genetic variations enhances our understanding of human genetic diversity by providing insights into how SNP frequencies vary across different populations. This information can highlight potential health disparities related to genetics, guiding public health initiatives and personalized medicine approaches. Furthermore, knowing which variants are prevalent can help researchers understand the evolutionary pressures acting on populations and predict how genetic factors contribute to complex diseases.

Related terms

SNP:

Single Nucleotide Polymorphism, a variation at a single position in a DNA sequence among individuals.

Genome-Wide Association Study (GWAS): A study that involves scanning the genomes from many individuals to find genetic variations associated with a particular disease.

Variant Interpretation: The process of determining the clinical significance of genetic variants identified through sequencing technologies.