Everything about DbSNP

🧭 Start here: a 6-step reading path

1. Read the overview: DbSNPA 5-minute orientation
2. Skim a recent paper: P765: Leveraging dbSNP for screening rare and novel genetic variants in disease and cancer researchInfluential work since 2022
3. Pick up a classic book: Bioinformatics for DNA sequence analysisThe most-reprinted book on the subject
4. Read the landmark paper: dbSNP: the NCBI database of genetic variationCited 6,706 times
5. Go sideways: Single-nucleotide polymorphismA closely related topic
6. Go sideways: VariomeA closely related topic

🏆 Landmark papers (most cited)

• dbSNP: the NCBI database of genetic variation

  S. T. Sherry · 2001 · Nucleic Acids Research · 6,706 citations

• dbSNP—Database for Single Nucleotide Polymorphisms and Other Classes of Minor Genetic Variation

  Stephen T. Sherry, Minghong Ward, Karl Sirotkin · 1999 · Genome Research · 790 citations

• dbSNP: a database of single nucleotide polymorphisms

  E. M. Smigielski · 2000 · Nucleic Acids Research · 519 citations

• The evolution of dbSNP: 25 years of impact in genomic research

  Lon Phan, Hua Zhang, Qiang Wang · 2024 · Nucleic Acids Research · 183 citations

• tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine

  Chih-Hsuan Wei, Lon Phan, Juliana Feltz · 2017 · Bioinformatics · 77 citations

• Searching NCBI's dbSNP Database

  Medha Bhagwat · 2010 · Current Protocols in Bioinformatics · 71 citations

• Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies

  Lucia Musumeci, Jonathan W. Arthur, Florence S. G. Cheung · 2010 · Human Mutation · 60 citations

• VariSNP, A Benchmark Database for Variations From dbSNP

  Gerard C.P. Schaafsma, Mauno Vihinen · 2015 · Human Mutation · 59 citations

🆕 Influential since 2022

• P765: Leveraging dbSNP for screening rare and novel genetic variants in disease and cancer research

  Lon Phan, Hua Zhang, Qiang Wang · 2025 · Genetics in Medicine Open · 0 citations

📚 Books worth reading

• Bioinformatics for DNA sequence analysis · 2009
• Bioinformatics for DNA sequence analysisDavid Posada · 2009
• 📕The NCBI handbookNational Center for Biotechnology Information (U.S.) · 2002

Ranked by number of editions on Open Library, a rough measure of how lasting a book is.

🔗 Related topics

• Single-nucleotide polymorphism In genetics and bioinformatics, a single-nucleotide polymorphism (SNP /snɪp/; plural SNPs /snɪps/) is a germline substitution of a single nucleotide at…
• Variome The variome is the whole set of genetic variations found in populations of species that have gone through a relatively short evolution change. For example…
• Human genetic variation Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles)…
• Functional element SNPs database The Functional Element SNPs Database (FESD) is a biological database of single nucleotide polymorphisms in molecular biology. The database is a tool designed…
• International HapMap Project The International HapMap Project is an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns…
• Human genome The human genome is a complete set of DNA sequences for each of the 22 autosomes and the two distinct sex chromosomes (X and Y) in humans. A small DNA…
• 1000 Genomes Project The 1000 Genomes Project (1KGP), taken place from January 2008 to 2015, was an international research effort to establish the most detailed catalogue of…
• SNP array In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. A single nucleotide polymorphism…