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As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

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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%).

Request Access

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