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NCBI's SNP database

Tutorial and training materials by OpenHelix

Learn to use the dbSNP resource, a large and valuable NCBI database that serves both as a repository for genomic variation data (including single nucleotide polymorphisms, microsatellites and small insertion/deletion mutations) and as a computational analysis resource. Learning to mine the dbSNP data will provide the researcher with extensive data and information about variations, evolution, disease and more. Understanding the structure of rs identifiers and ss identifiers will provide important conceptual features of SNP stored records within dbSNP and at other sites that employ dbSNP data. Access points from the dbSNP and the EntrezSNP interface will be explored.
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You'll learn:

  • how to query the database by SNP attributes, submitter and other information
  • how to understand the contents of the rsID records and ssID records
  • where to find detailed information about individual variations
  • how to accomplish additional search types of the database


Categories

View additional tutorials for resources in

  • Variation & Medical
  • NCBI : This category includes all resources maintained at the National Center for Biotechnology Information (NCBI)

Recent BioMed Central research articles citing this resource

Bárcena Clea et al., Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-51

Brenton A Ashley et al., Engineered single nucleotide polymorphisms in the mosquito MEK docking site alter Plasmodium berghei development in Anopheles gambiae. Parasites Vectors (2014) doi:10.1186/1756-3305-7-287

Scharpf B Robert et al., Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations Complex traits and quantitative genetics. BMC Genetics (2014) doi:10.1186/1471-2156-15-81

Murthy R Krishna et al., Proteomic analysis of human vitreous humor. Clinical Proteomics (2014) doi:10.1186/1559-0275-11-29

Ramalho AVF Eduardo et al., Assessment of changes in the brca2 and p53 genes in breast invasive ductal carcinoma in northeast Brazil. Biological Research (2014) doi:10.1186/0717-6287-47-3

More about the resource:

dbSNP is one of the many useful resources supported by the National Center for Biotechnology Information, or NCBI, and acts as a repository for individual submissions from labs and institutions, and provides interfaces to search, retrieve, and display a wealth of information about variation in many species. Additionally, reference variation data is computed from the entire database of individual variation submissions. dbSNP can be browsed or queried in several ways, including basic searches on submission type, SNP attributes, submitter information and much more. Additionally, there is advanced searching using the Entrez system.


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The materials and slides offered can not be resold or used for profit purposes. Reproduction, distribution and/or use is strictly limited to instructional purposes only and can not be used for for monetary gain or wide distribution.
Copyright 2009, OpenHelix, LLC.

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