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%).
- 27/06/2017
- 38 samples
- DAC: EGAC00001000680
- Technology: Illumina MiSeq
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) | ||||