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Targeted resequencing of Cardiomyopathies associated genes

In this study, we present the results of a custom “pan-cardiomyopathy panel” in a molecular screening of 38 unrelated patients, 16 affected by DCM, 14 by HCM, and 8 by ARVC. The panel was designed using the Design Studio Tool (Illumina, San Diego, CA,USA). Coding regions and intron–exon boundaries of 115 genes, known to be associated with 7 DCM, HCM, and ARVC as well as channelopathies, were selected for targeted gene enrichment. For genes with multiple transcripts, all exons included in transcripts expressed in cardiac muscle were considered in the gene panel design. Total DNA was extracted from peripheral blood samples using the Wizard Genomic DNA Purification Kit (Promega, Mannheim, Germany) according to the manufacturer’s instructions, quantified, and qualitatively checked using NanoDrop 2000c (Thermo Fisher Scientific, Waltham, MA, USA). Custom targeted gene enrichment and DNA library preparation were performed using the Nextera Capture Custom Enrichment kit (Illumina) according to the manufacturer’s instructions. Targeted regions were sequenced using the Illumina MiSeq platform, generating approximately two millions of 150-bp paired-end reads for each sample (Q30 ≥90%).

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Access upon request, research only.

Researchers interested in working with the following data, Study EGAS00001002506 ena-STUDY-IBIOM-12-06-2017-17:33:10:605-1058 or any of the samples contained in such study (EGAN00001553783 to EGAN00001553820) are required to request access to Stefano Favale (stefano.favale@uniba.it) or Cinzia Forleo (cinzia.forleo@uniba.it) by compiling the DAA template document available at https://www.ebi.ac.uk/ega/sites/ebi.ac.uk.ega/files/documents/Example%20DAA.doc . Access will be granted only to PIs working in public research institutes or academia and will be restricted to research purposes only,

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001002506 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00001669334 fastq.gz 87.9 MB
EGAF00001669335 fastq.gz 87.5 MB
EGAF00001669336 fastq.gz 100.2 MB
EGAF00001669337 fastq.gz 112.0 MB
EGAF00001669338 fastq.gz 89.4 MB
EGAF00001669339 fastq.gz 88.6 MB
EGAF00001669340 fastq.gz 88.7 MB
EGAF00001669341 fastq.gz 85.1 MB
EGAF00001669342 fastq.gz 91.2 MB
EGAF00001669343 fastq.gz 95.8 MB
EGAF00001669344 fastq.gz 84.9 MB
EGAF00001669345 fastq.gz 86.7 MB
EGAF00001669346 fastq.gz 60.7 MB
EGAF00001669347 fastq.gz 54.3 MB
EGAF00001669348 fastq.gz 100.0 MB
EGAF00001669349 fastq.gz 96.9 MB
EGAF00001669350 fastq.gz 98.1 MB
EGAF00001669351 fastq.gz 112.6 MB
EGAF00001669352 fastq.gz 87.2 MB
EGAF00001669353 fastq.gz 98.9 MB
EGAF00001669354 fastq.gz 84.7 MB
EGAF00001669355 fastq.gz 91.8 MB
EGAF00001669356 fastq.gz 127.4 MB
EGAF00001669357 fastq.gz 138.8 MB
EGAF00001669358 fastq.gz 79.8 MB
EGAF00001669359 fastq.gz 79.9 MB
EGAF00001669360 fastq.gz 73.4 MB
EGAF00001669361 fastq.gz 70.2 MB
EGAF00001669362 fastq.gz 56.9 MB
EGAF00001669363 fastq.gz 52.6 MB
EGAF00001669364 fastq.gz 153.0 MB
EGAF00001669365 fastq.gz 174.4 MB
EGAF00001669366 fastq.gz 81.5 MB
EGAF00001669367 fastq.gz 81.5 MB
EGAF00001669368 fastq.gz 104.3 MB
EGAF00001669369 fastq.gz 116.0 MB
EGAF00001669370 fastq.gz 109.3 MB
EGAF00001669371 fastq.gz 122.9 MB
EGAF00001669372 fastq.gz 89.5 MB
EGAF00001669373 fastq.gz 101.7 MB
EGAF00001669374 fastq.gz 144.8 MB
EGAF00001669375 fastq.gz 157.2 MB
EGAF00001669376 fastq.gz 69.9 MB
EGAF00001669377 fastq.gz 71.9 MB
EGAF00001669378 fastq.gz 95.1 MB
EGAF00001669379 fastq.gz 113.1 MB
EGAF00001669380 fastq.gz 90.3 MB
EGAF00001669381 fastq.gz 101.8 MB
EGAF00001669382 fastq.gz 105.5 MB
EGAF00001669383 fastq.gz 119.5 MB
EGAF00001669384 fastq.gz 70.9 MB
EGAF00001669385 fastq.gz 69.7 MB
EGAF00001669386 fastq.gz 111.7 MB
EGAF00001669387 fastq.gz 127.6 MB
EGAF00001669388 fastq.gz 73.4 MB
EGAF00001669389 fastq.gz 81.6 MB
EGAF00001669390 fastq.gz 140.6 MB
EGAF00001669391 fastq.gz 155.8 MB
EGAF00001669392 fastq.gz 172.1 MB
EGAF00001669393 fastq.gz 172.1 MB
EGAF00001669394 fastq.gz 84.2 MB
EGAF00001669395 fastq.gz 84.9 MB
EGAF00001669396 fastq.gz 116.5 MB
EGAF00001669397 fastq.gz 134.4 MB
EGAF00001669398 fastq.gz 74.7 MB
EGAF00001669399 fastq.gz 83.5 MB
EGAF00001669400 fastq.gz 127.3 MB
EGAF00001669401 fastq.gz 145.6 MB
EGAF00001669402 fastq.gz 92.3 MB
EGAF00001669403 fastq.gz 106.9 MB
EGAF00001669404 fastq.gz 103.0 MB
EGAF00001669405 fastq.gz 112.8 MB
EGAF00001669406 fastq.gz 160.1 MB
EGAF00001669407 fastq.gz 176.9 MB
EGAF00001669408 fastq.gz 137.1 MB
EGAF00001669409 fastq.gz 159.1 MB
76 Files (7.9 GB)