ClinVar: improvements to accessing data. Issue Volume 48:Issue D1(2020) (28th November 2019)

• Record Type: Journal Article
• Authors: Landrum, Melissa J; Chitipiralla, Shanmuga; Brown, Garth R; Chen, Chao; Gu, Baoshan; Hart, Jennifer; Hoffman, Douglas; Jang, Wonhee; Kaur, Kuljeet; Liu, Chunlei; Lyoshin, Vitaly; Maddipatla, Zenith; Maiti, Rama; Mitchell, Joseph; O'Leary, Nuala; Riley, George R; Shi, Wenyao; Zhou, George; Schneider, Valerie; Maglott, Donna; Holmes, J Bradley; Kattman, Brandi L
• Is Part Of: Nucleic acids research. Volume 48:Issue D1(2020)
• Page Start: D835
• Page End: D844
• Publication Date: 2019-11-28
• Subjects: Nucleic acids -- Periodicals; Molecular biology -- Periodicals; 572.805
• DOI: 10.1093/nar/gkz972
• Languages: English
• ISSNs: 0305-1048

Abstract

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 represents more complex data such as haplotypes and genotypes, as well as variants that are in ClinVar as part of a haplotype or genotype but have no interpretation for the single variant. ClinVar's variant-centric XML had its production release in April 2019. The ClinVar website and E-utilities both have been updated to support the VCV (variation in ClinVar) accession numbers found in the variant-centric XML file. ClinVar's search engine has been fine-tuned for improved retrieval of search results.