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identifier PRJDB2547
type bioproject
sra-study  DRP000491
organism Homo sapiens
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
data type DDBJ SRA Study
external link
sra-run  DRR001558DRR001559DRR001560DRR001561DRR001562DRR001563DRR001564DRR001565
sra-submission  DRA000472
biosample  SAMD00012540SAMD00012543SAMD00012539SAMD00012541SAMD00012536SAMD00012542SAMD00012538SAMD00012537
sra-study  DRP000491
sra-sample  DRS001104DRS001105DRS001106DRS001107DRS001108DRS001109DRS001110DRS001111
sra-experiment  DRX001082DRX001083DRX001084DRX001085DRX001086DRX001087DRX001088DRX001089
distribution JSONJSON-LD
status public
visibility unrestricted-access
dateCreated 2014-05-12T00:46:27+0000
dateModified 2014-05-12T00:46:27+0000
datePublished 2014-05-12T00:46:27+0000