{"identifier":"DRP000491","properties":{"STUDY_SET":{"STUDY":{"accession":"DRP000491","center_name":"BioProject","alias":"PRJDB2547","IDENTIFIERS":{"PRIMARY_ID":"DRP000491","EXTERNAL_ID":{"namespace":"BioProject","label":"primary","content":"PRJDB2547"}},"DESCRIPTOR":{"STUDY_TITLE":"DCM whole exome sequence","STUDY_TYPE":{"existing_study_type":"Other"},"STUDY_ABSTRACT":"The population of this study consisted of 5 affected family members and 5 unaffected family members with a genealogy of Dilated cardiomyopathy (DCM), as well as 3 unrelated controls. In the whole-exome analysis, we evaluated 5 affected and 1 unaffected members of the diseased family and 2 controls outside of that family in one sequence run. We picked up effectively 107 nonsynonymous mutations by whole-exome resequencing with low coverage and narrowed down the candidate genes by using a single-nucleotide polymorphism database and prioritizing the significance of amino acid substitutions. By confirming the mutation using direct nucleotide sequencing, we determined that LMNA was the responsible gene. none provided","CENTER_PROJECT_NAME":"Homo sapiens"}}}},"distribution":[{"type":"DataDownload","encodingFormat":"JSON","contentUrl":"https://ddbj.nig.ac.jp/search/entry/sra-study/DRP000491.json"},{"type":"DataDownload","encodingFormat":"JSON-LD","contentUrl":"https://ddbj.nig.ac.jp/search/entry/sra-study/DRP000491.jsonld"}],"isPartOf":"sra","type":"sra-study","name":"PRJDB2547","url":"https://ddbj.nig.ac.jp/search/entry/sra-study/DRP000491","organism":null,"title":"DCM whole exome sequence","description":"The population of this study consisted of 5 affected family members and 5 unaffected family members with a genealogy of Dilated cardiomyopathy (DCM), as well as 3 unrelated controls. In the whole-exome analysis, we evaluated 5 affected and 1 unaffected members of the diseased family and 2 controls outside of that family in one sequence run. We picked up effectively 107 nonsynonymous mutations by whole-exome resequencing with low coverage and narrowed down the candidate genes by using a single-nucleotide polymorphism database and prioritizing the significance of amino acid substitutions. By confirming the mutation using direct nucleotide sequencing, we determined that LMNA was the responsible gene. none provided","sameAs":[],"status":"public","accessibility":"public-access","dateCreated":"2014-03-26T14:04:57Z","dateModified":"2017-09-17T22:10:49Z","datePublished":"2014-05-15T01:36:04Z","dbXrefs":[{"identifier":"PRJDB2547","type":"bioproject","url":"https://ddbj.nig.ac.jp/search/entry/bioproject/PRJDB2547"},{"identifier":"DRX001082","type":"sra-experiment","url":"https://ddbj.nig.ac.jp/search/entry/sra-experiment/DRX001082"},{"identifier":"DRX001083","type":"sra-experiment","url":"https://ddbj.nig.ac.jp/search/entry/sra-experiment/DRX001083"},{"identifier":"DRX001084","type":"sra-experiment","url":"https://ddbj.nig.ac.jp/search/entry/sra-experiment/DRX001084"},{"identifier":"DRX001085","type":"sra-experiment","url":"https://ddbj.nig.ac.jp/search/entry/sra-experiment/DRX001085"},{"identifier":"DRX001086","type":"sra-experiment","url":"https://ddbj.nig.ac.jp/search/entry/sra-experiment/DRX001086"},{"identifier":"DRX001087","type":"sra-experiment","url":"https://ddbj.nig.ac.jp/search/entry/sra-experiment/DRX001087"},{"identifier":"DRX001088","type":"sra-experiment","url":"https://ddbj.nig.ac.jp/search/entry/sra-experiment/DRX001088"},{"identifier":"DRX001089","type":"sra-experiment","url":"https://ddbj.nig.ac.jp/search/entry/sra-experiment/DRX001089"},{"identifier":"DRA000472","type":"sra-submission","url":"https://ddbj.nig.ac.jp/search/entry/sra-submission/DRA000472"}]}