ClinVar: improvements to accessing data

作者：Melissa Landrum, Shanmuga Chitipiralla, Garth Brown, Chao Chen, Baoshan Gu, Jennifer Anne Hart, Douglas C. Hoffman, Wonhee Jang, Kuljeet Kaur, Chunlei Liu, Vitaly Lyoshin, Zenith Maddipatla, Rama Maiti, J. Kent Mitchell, Nuala A. O’Leary, George F. Riley, Wenyao Shi, George Zhou, Valérie Schneider, Donna R. Maglott, J. Bradley Holmes, Brandi L. Kattman · 发表于：Nucleic Acids Research · 年份：2019 · DOI：10.1093/nar/gkz972 · 被引用次数：1113 · 研究领域：Genomics and Rare Diseases、BRCA gene mutations in cancer、Cancer Genomics and Diagnostics

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.