fig1

Rare variants in the <i>FBN1</i> gene are associated with sporadic dilated cardiomyopathy in a Chinese Han population

Figure 1. Flowchart illustrating the screening criteria for identifying rare deleterious variants in FBN1 and other known DCM-associated genes. DCM: Dilated cardiomyopathy; WES: whole-exome sequencing; BWA: burrows-Wheeler algorithm; GATK: genome analysis toolkit; MAF: minor allele frequency; EAS: East Asian; ACMG: American College of Medical Genetics and Genomics; VUS: variants of uncertain significance; REVEL: rare exome variant ensemble learner; VEST3: variant effect scoring tool version 3; CADD: combined annotation dependent depletion; TTNtv: TTN truncating variants; PSI: percentage spliced in.

The Journal of Cardiovascular Aging

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