Hunting genes in the spectrum of left dominant arrhythmogenic cardiomyopathy

Employer
Dipartimento di Scienze Cardiologiche, Toraciche e Vascolari
Location
Italy
Posted
October 05 2017
Position Type
Full Time
Organization Type
Academia

Applicationofparallelmassive sequencing insearch ofgenes associatedwiththeleft-dominant arrhythmogenic cardiomyopathyLDAC.will use2-step approach:-Throughwholeexome sequencing(WES)in10families withLDACtrio strategy,which will pinpointputative disease-causing gene(s:10suddendeathvictims with proven postmortemLDACdiagnosiswillbeselected and2affectedsiblings of each n=20-ThroughWES of 30 unrelatedgenotype-negativeLDACcaseswill reaffirm causality ofgenesandmutations:19sudden death victimswithprovenpostmortemdiagnosisof LDACand11patientswithLDACdocumentedbyLE-CMR,of whom3underwentcardiacransplantation.Development of bioinformatic pipeline in order to detect CNVs tillsingle exondeletions orduplications.will apply wellestablished bioinformatics algorithms with a limited powerindetecting CNVs less than 1kb onWES data previously;and finally we will develop an inhouse bioinformatics pipeline optimized for thedetectionofCNVsrangingfromasingle exontowhole genedeletionfromWESdata inclinical setting



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