NCBI staff will share knowledge on various topics at the American Society of Human Genetics (ASHG) conference this month in San Diego. Here, on NCBI Insights, we feature some preliminary details for one of NCBI’s dbSNP posters.
You can visit poster 1692W “Improving dbSNP Data Quality and Annotation for Variant Interpretation” on Wednesday, Oct. 17 from 3 PM to 4 PM at ASHG.
dbSNP is a database of Short Genetic Variation. While “SNP” stands for single nucleotide polymorphisms (SNPs), the database not only includes SNPs, but also multiple small-scale variations that include insertions/deletions, microsatellites, and non-polymorphic variants along with allele frequency data.
Multiple submitters submit the genetic variation data to us, then dbSNP aggregates, annotates, and assigns stable Reference SNP (rs) identifiers used by researchers, databases, and testing labs. Over 40K publications cite rs and the database currently houses over 650 million human rs – an average of one variant every 5 nucleotides across the genome!
The dbSNP team knows how essential the data quality and timely release are for users in aiding interpretation and prioritization of variants. The team constantly works hard to improve data annotation quality and throughput methods to appropriately handle the enormous variation dataset.
Want more details on the different approaches that the dbSNP team applies to improve data quality and annotation?
Check out poster 1692W “Improving dbSNP Data Quality and Annotation for Variant Interpretation” on Wednesday, Oct. 17 from 3 PM to 4 PM at ASHG.
Also, learn how to access dbSNP data beforehand in the companion poster 1653W “NCBI Services for Variation Normalization, Remapping, and Annotation” on Wednesday, Oct. 17 from 2 PM to 3 PM.
To stay up-to-date about NCBI staff activities at ASHG 2018, follow us on Twitter at @NCBI_Clinical and @NCBI. For more information about other NCBI presentations at ASHG, check the Conferences and Presentations page.