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ClinVar aggregates information about genomic variation and its relationship to human health.
25 de jan. de 2024 · ClinVar is designed to support our evolving understanding of the relationship between variants and diseases or drug responses. By aggregating information about variant classifications, ClinVar supports establishment of the clinical validity of human variation.
26 de jan. de 2024 · The primary web display in ClinVar is a variation-centric page that aggregates information submitted for a variation for all of the reported conditions (the accession starting with VCV), along with details for each submission about the variation (the accession starting with SCV).
ClinVar é um arquivo público de livre acesso de relatórios das relações entre variações e fenótipos humanos, com evidências de apoio [1]. O banco de dados inclui variantes germinativas e somáticas de qualquer tamanho, tipo ou localização genômica.
31 de mai. de 2018 · ClinVar partners with ClinGen to advance knowledge connecting human variation to human health. Although both support centralization of information to improve access, there are some differences worth noting.
3 de abr. de 2023 · 10 years of ClinVar. The field of variant discovery and classification for diseases has increased rapidly in the last decade! In its initial release in April 2013, ClinVar held 27K variants. As of April 2023, ClinVar offers: 2M+ variants. 2K+ submitters. 80+ countries across the globe.
30 de ago. de 2022 · Maps clinically significant variants by gene and position! ClinVar is a freely accessible, public archive of reports of the relationships between human variations and phenotypes, with supporting evidence at NLM/NCBI.
