ClinVar: improvements to accessing data
National Institutes of Health · National Center for Biotechnology Information
Abstract
ClinVar is a freely available, public archive of human genetic variants and interpretations of their relationships to diseases and other conditions, maintained at the National Institutes of Health (NIH). Submitted interpretations of variants are aggregated and made available on the ClinVar website (https://www.ncbi.nlm.nih.gov/clinvar/), and as downloadable files via FTP and through programmatic tools such as NCBI's E-utilities. The default view on the ClinVar website, the Variation page, was recently redesigned. The new layout includes several new sections that make it easier to find submitted data as well as summary data such as all diseases and citations reported for the variant. The new design also better…
Citation impact
- FWCI
- 68.73
- Percentile
- 100%
- References
- 15
Authors
22- MLMelissa LandrumCorresponding
National Institutes of Health, National Center for Biotechnology Information
- SCShanmuga Chitipiralla
National Institutes of Health, National Center for Biotechnology Information
- GBGarth Brown
National Institutes of Health, National Center for Biotechnology Information
- CCChao Chen
National Institutes of Health, National Center for Biotechnology Information
- BGBaoshan Gu
National Institutes of Health, National Center for Biotechnology Information
Topics & keywords
- File Transfer Protocol
- XML
- Computer science
- Biology
- Data file
- Information retrieval
- Database
- World Wide Web