Literature DB >> 31777943

ClinVar: improvements to accessing data.

Melissa J Landrum1, Shanmuga Chitipiralla1, Garth R Brown1, Chao Chen1, Baoshan Gu1, Jennifer Hart1, Douglas Hoffman1, Wonhee Jang1, Kuljeet Kaur1, Chunlei Liu1, Vitaly Lyoshin1, Zenith Maddipatla1, Rama Maiti1, Joseph Mitchell1, Nuala O'Leary1, George R Riley1, Wenyao Shi1, George Zhou1, Valerie Schneider1, Donna Maglott1, J Bradley Holmes1, Brandi L Kattman1.   

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. Published by Oxford University Press on behalf of Nucleic Acids Research 2019.

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Year:  2020        PMID: 31777943      PMCID: PMC6943040          DOI: 10.1093/nar/gkz972

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


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