{"action":"opened","issue":{"url":"https://api.github.com/repos/ClinGen/clincoded/issues/654","repository_url":"https://api.github.com/repos/ClinGen/clincoded","labels_url":"https://api.github.com/repos/ClinGen/clincoded/issues/654/labels{/name}","comments_url":"https://api.github.com/repos/ClinGen/clincoded/issues/654/comments","events_url":"https://api.github.com/repos/ClinGen/clincoded/issues/654/events","html_url":"https://github.com/ClinGen/clincoded/issues/654","id":148914675,"number":654,"title":"ClinVar data integration","user":{"login":"wrightmw","id":15131169,"avatar_url":"https://avatars.githubusercontent.com/u/15131169?v=3","gravatar_id":"","url":"https://api.github.com/users/wrightmw","html_url":"https://github.com/wrightmw","followers_url":"https://api.github.com/users/wrightmw/followers","following_url":"https://api.github.com/users/wrightmw/following{/other_user}","gists_url":"https://api.github.com/users/wrightmw/gists{/gist_id}","starred_url":"https://api.github.com/users/wrightmw/starred{/owner}{/repo}","subscriptions_url":"https://api.github.com/users/wrightmw/subscriptions","organizations_url":"https://api.github.com/users/wrightmw/orgs","repos_url":"https://api.github.com/users/wrightmw/repos","events_url":"https://api.github.com/users/wrightmw/events{/privacy}","received_events_url":"https://api.github.com/users/wrightmw/received_events","type":"User","site_admin":false},"labels":[{"url":"https://api.github.com/repos/ClinGen/clincoded/labels/data%20integration","name":"data integration","color":"5319e7"}],"state":"open","locked":false,"assignee":null,"milestone":null,"comments":0,"created_at":"2016-04-17T03:29:22Z","updated_at":"2016-04-17T03:29:22Z","closed_at":null,"body":"ClinVar - NCBI database containing the relationships between human variations and phenotypes http://www.ncbi.nlm.nih.gov/clinvar/\r\n\r\nDownload sources:\r\nComplete public data set (XML): (ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/)\r\nPartial set of short variants (VCF): (ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf/)\r\nComplete set of summaries about variants or genes (TSV): (ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/)\r\nComplete set of disease names and gene-disease relationships (TSV): (ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/)… NB: this specific set is updated daily\r\nClinVar data can be accessed via E-utilities (XML/JSON)\r\n\r\nRequired fields:\r\nTBD... \r\n\r\nUsage policy:\r\nOpen source and open access\r\n\r\nUpdate frequency/Release cycle:\r\nUpdated first Thursday of the month"}}