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.
You will learn:
This tutorial is a part of the tutorial group Human variations. You might find the other tutorials in the group interesting:
GAD: Genetic Association Database: An archived database associating human genes and polymorphisms with diseases
Madeline 2.0: Human pedigree diagram tools
DrugBank: A chemoinformatics and bioinformatics resource
DGV: Database of Genomic Variants: Database of Genomic Variants, DGV, catalogs and displays structural variation in the human genome
OMIM: Online Mendelian Inheritance in Man (OMIM): A database of human genes, genetic diseases and disorders
CGAP: Characterize the molecular genetic changes that cause a normal cell to become a cancer cell
ENCODE Foundations: ENCyclopedia of DNA Elements
GeneSNPs: An integrated view of gene structure and SNP variations
NIEHS SNPs: National Institute for Environmental Health Sciences Environmental Genome Project (EGP) SNPs
HapMap: HapMap, a database and analysis resource of human variation
Genetics Home Reference: A collection of data describing the effects of genetic variability on human health and disease
dbGaP: A database of genotypes and phenotypes with extensive variation data and clinical details
SeattleSNPs: Human SNPs in genes
GeneTests: GeneTests, a current, comprehensive genetic testing resource
Variation & Medical : Resources that include information about sequence variation, phenotypes, or medically-relevant conditions.
NCBI : This category includes resources maintained at the National Center for Biotechnology Information (NCBI).
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Recent BioMed Central research articles citing this resource
Palermo Maria Anna et al., Footprint of the eastern euroasian past in Italian populations of Cryptotaenia thomasii (Ten.) DC Ecology. Botanical Studies (2017) doi:10.1186/s40529-016-0155-5
Celik Ibrahim et al., Genome-wide SNP discovery and QTL mapping for fruit quality traits in inbred backcross lines (IBLs) of solanum pimpinellifolium using genotyping by sequencing Plant genomics. BMC Genomics (2017) doi:10.1186/s12864-016-3406-7
Breusing Corinna et al., Widespread introgression in deep-sea hydrothermal vent mussels Speciation and evolutionary genetics. BMC Evolutionary Biology (2017) doi:10.1186/s12862-016-0862-2
Janssen G. Bram et al., Placental mitochondrial DNA and CYP1A1 gene methylation as molecular signatures for tobacco smoke exposure in pregnant women and the relevance for birth weight Disease Biomarkers. Journal of Translational Medicine (2017) doi:10.1186/s12967-016-1113-4
Torkamaneh Davoud et al., Fast-GBS: a new pipeline for the efficient and highly accurate calling of SNPs from genotyping-by-sequencing data Results and data. BMC Bioinformatics (2017) doi:10.1186/s12859-016-1431-9