ClinVar: improvements to accessing data
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ID: 302135
2019
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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.
| Reference Key |
openalex_W2990435446
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| Authors | Melissa Landrum, Shanmuga Chitipiralla, Garth Brown, Chao Chen, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Kuljeet Kaur, Chunlei Liu, Vitaly Lyoshin, Zenith Maddipatla, Rama Maiti, J. Kent Mitchell, Nuala A. O’Leary, George Riley, Wenyao Shi, George Zhou, Valérie Schneider, Donna Maglott, J. Bradley Holmes, B Kattman |
| Journal | Nucleic Acids Research |
| Year | 2019 |
| DOI |
10.1093/nar/gkz972
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| URL | |
| Keywords | Keywords not found |
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