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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
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