2018, Vol. 46, Database issue | Melissa J. Landrum, Jennifer M. Lee, Mark Benson, Garth R. Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Karen Karapetyan, Kenneth Katz, Chunlei Liu, Zenith Maddipatla, Adriana Malheiro, Kurt McDaniel, Michael Ovetsky, George Riley, George Zhou, J. Bradley Holmes, Brandi L. Kattman and Donna R. Maglott
ClinVar is a publicly available, centralized database maintained by the National Center for Biotechnology Information (NCBI) that archives human genetic variants and their interpretations. The database includes submissions from clinical testing laboratories, research laboratories, expert panels, and other groups. ClinVar aggregates data by variant-disease pairs and individual variants, providing improved access to variant-centric data through new XML reports and VCF files. Recent enhancements include VCV accession numbers for Variation IDs, new XML fields for more precise searching, and improvements to the VCF files to better reflect allele-centric data. ClinVar also supports phenotype-rich submissions, allowing for detailed phenotypic information to be included in variant interpretations. Additionally, improvements to the search function have been made to facilitate more focused queries, such as by date, gene, and phenotype. These updates aim to enhance the usability and accessibility of ClinVar for researchers and clinicians.ClinVar is a publicly available, centralized database maintained by the National Center for Biotechnology Information (NCBI) that archives human genetic variants and their interpretations. The database includes submissions from clinical testing laboratories, research laboratories, expert panels, and other groups. ClinVar aggregates data by variant-disease pairs and individual variants, providing improved access to variant-centric data through new XML reports and VCF files. Recent enhancements include VCV accession numbers for Variation IDs, new XML fields for more precise searching, and improvements to the VCF files to better reflect allele-centric data. ClinVar also supports phenotype-rich submissions, allowing for detailed phenotypic information to be included in variant interpretations. Additionally, improvements to the search function have been made to facilitate more focused queries, such as by date, gene, and phenotype. These updates aim to enhance the usability and accessibility of ClinVar for researchers and clinicians.