Next generation sequencing

Post-analysis categorization
- Literature search
Post-survey categorization
- Features validated in most cases
- Features not validated
Simple lists
Preliminary lists

Tool name

dbSNP

URL

http://www.ncbi.nlm.nih.gov/snp/

Important features

1. It includes single nucleotide substitutions, small insertion/deletion polymorphisms, invariant regions of sequence, microsatellite repeats, named variants <0.001% and uncharacterized heterozygous assays. 2. It contains original submission records and reference SNP records. 3. Reference SNP records has variation summary. 4. It contains data from Watson, venter and Korean individual.

Citations

Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001 Jan 1;29(1):308-11. PubMed PMID: 11125122; PubMed Central PMCID: PMC29783.

Year of publication

2001

Rank by usage frequency

100

Comments

Function

Visualization, SNP discovery, Structural variant discovery