DbSNP

Definition

dbSNP, or the Single Nucleotide Polymorphism Database, is a free database that provides information about genetic variation among populations. It serves as a central repository for single nucleotide polymorphisms (SNPs) and other classes of minor genetic variants, making it essential for understanding mutations and genetic diversity as well as for variant calling and analysis in bioinformatics.

5 Must Know Facts For Your Next Test

1. dbSNP is maintained by the National Center for Biotechnology Information (NCBI) and includes millions of SNP entries from various organisms.
2. The database allows researchers to query SNPs by various criteria, including gene name, chromosome location, and genomic context.
3. Data from dbSNP can be integrated into studies of population genetics, disease association studies, and personalized medicine.
4. dbSNP also provides information on the allele frequency of SNPs in different populations, which can help in understanding population structure and genetic diversity.
5. Variants reported in dbSNP are often used as references in variant calling pipelines to compare new sequencing data against known polymorphisms.

Review Questions

• How does dbSNP contribute to our understanding of genetic variation and mutations within populations?
  • dbSNP provides a comprehensive collection of single nucleotide polymorphisms (SNPs) and other minor genetic variants across different populations. By offering insights into allele frequencies and their associations with phenotypes or diseases, dbSNP helps researchers understand the extent of genetic variation within populations. This information is critical for studying how mutations influence health and traits in individuals and groups.
• Discuss the role of dbSNP in the variant calling process and its importance in bioinformatics analyses.
  • In the variant calling process, dbSNP serves as a reference database that helps researchers identify known variants in sequencing data. By comparing newly sequenced genomic data against the extensive entries in dbSNP, bioinformaticians can accurately call variants and distinguish between novel mutations and established polymorphisms. This comparison is essential for ensuring the reliability of genetic analyses in research and clinical applications.
• Evaluate the impact of dbSNP on advancements in personalized medicine and population genetics research.
  • The existence of dbSNP has significantly advanced personalized medicine by providing a resource for identifying genetic variations associated with individual responses to drugs and disease susceptibility. By analyzing SNP data from dbSNP alongside clinical outcomes, researchers can tailor treatment plans based on an individual's genetic makeup. Additionally, dbSNP enhances population genetics research by offering insights into genetic diversity and evolutionary patterns, helping scientists understand how genetic variation influences health and adaptation across different populations.

Related terms

SNP: A single nucleotide polymorphism (SNP) is a variation at a single position in a DNA sequence among individuals, which can affect how humans develop diseases and respond to pathogens, drugs, and other environmental factors.

Variant Calling:

Variant calling is the process of identifying variants from sequencing data, which can include SNPs, insertions, deletions, and other genomic alterations.

Genomic Annotation: Genomic annotation involves the process of adding information to genomic sequences to describe features such as genes, regulatory elements, and variations like those found in dbSNP.