ClinVar 10th Anniversary

ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. ClinVar processes submissions reporting variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar then presents the data for interactive users as well as those wishing to use ClinVar in daily workflows and other local applications. ClinVar works in collaboration with interested organizations to meet the needs of the medical genetics community as efficiently and effectively as possible.

https://www.ncbi.nlm.nih.gov/clinvar/

ClinVar's 10 year timeline:

2013 - First production release; 27K variants
2014 - ClinVar Submission Portal; 100K variants
2015 - Single Submission Wizard
2016 - Weekly data releases
2017 - Allele-specific VCF; 200K variants
2018 - Single SCV Update
2019 - Website/XML redesign; 500K variants
2020 - Pre-submission validation
2021 - Submission API; 1M variants
2022 - Graphical views for search results
2023 - Coming soon: somatic classifications; 2M variants

Видео ClinVar 10th Anniversary канала National Library of Medicine