ESGI - Molecular diagnosis for mitochondrial disorders (2017-08-29)
The MITOEXME project aims to improve protocols for molecular diagnosis of patients with OXPHOS disorders with a focus on a next generation sequencing methods and to increase the knowledge of pahtophysiological mechanisms by identification of new targets and cellular studies. In this project we will sequence the exomes fo 120 patients. This dataset contains all the data available for this study on 2017-08-29.
- 30/08/2017
- 125 samples
- DAC: EGAC00001000205
- Technology: Illumina HiSeq 2000
Wellcome Trust Sanger Institute Data Sharing Policy
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 |
---|---|---|
EGAS00001000164 | 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 | |
---|---|---|---|---|
EGAF00000238357 | bam | 3.7 GB | ||
EGAF00000238358 | bam | 3.8 GB | ||
EGAF00000238359 | bam | 3.8 GB | ||
EGAF00000238360 | bam | 3.6 GB | ||
EGAF00000238361 | bam | 3.6 GB | ||
EGAF00000238362 | bam | 3.9 GB | ||
EGAF00000238363 | bam | 3.7 GB | ||
EGAF00000238364 | bam | 4.2 GB | ||
EGAF00000238365 | bam | 3.6 GB | ||
EGAF00000238366 | bam | 3.8 GB | ||
EGAF00000238367 | bam | 3.9 GB | ||
EGAF00000238368 | bam | 3.9 GB | ||
EGAF00000238369 | bam | 3.8 GB | ||
EGAF00000238370 | bam | 3.9 GB | ||
EGAF00000238371 | bam | 3.9 GB | ||
EGAF00000238372 | bam | 3.9 GB | ||
EGAF00000238373 | bam | 3.5 GB | ||
EGAF00000238374 | bam | 3.9 GB | ||
EGAF00000238375 | bam | 3.7 GB | ||
EGAF00000238376 | bam | 3.5 GB | ||
EGAF00000238377 | bam | 3.3 GB | ||
EGAF00000238378 | bam | 4.1 GB | ||
EGAF00000238379 | bam | 3.9 GB | ||
EGAF00000238380 | bam | 3.9 GB | ||
EGAF00000238381 | bam | 3.8 GB | ||
EGAF00000238382 | bam | 3.8 GB | ||
EGAF00000238383 | bam | 3.8 GB | ||
EGAF00000238384 | bam | 3.9 GB | ||
EGAF00000238385 | bam | 3.6 GB | ||
EGAF00000238386 | bam | 3.5 GB | ||
EGAF00000238387 | bam | 4.1 GB | ||
EGAF00000238388 | bam | 3.9 GB | ||
EGAF00000238389 | bam | 4.0 GB | ||
EGAF00000238390 | bam | 3.6 GB | ||
EGAF00000238391 | bam | 3.5 GB | ||
EGAF00000238392 | bam | 3.8 GB | ||
EGAF00000238393 | bam | 3.5 GB | ||
EGAF00000238394 | bam | 3.6 GB | ||
EGAF00000238395 | bam | 3.6 GB | ||
EGAF00000238396 | bam | 3.3 GB | ||
EGAF00000238397 | bam | 3.9 GB | ||
EGAF00000238398 | bam | 3.7 GB | ||
EGAF00000238399 | bam | 3.8 GB | ||
EGAF00000238400 | bam | 3.6 GB | ||
EGAF00000238401 | bam | 3.8 GB | ||
EGAF00000238402 | bam | 3.6 GB | ||
EGAF00000238403 | bam | 3.6 GB | ||
EGAF00000238404 | bam | 4.1 GB | ||
EGAF00000238405 | bam | 4.6 GB | ||
EGAF00000238406 | bam | 3.7 GB | ||
EGAF00000238407 | bam | 4.2 GB | ||
EGAF00000238408 | bam | 4.4 GB | ||
EGAF00000238409 | bam | 4.0 GB | ||
EGAF00000238410 | bam | 4.4 GB | ||
EGAF00000238411 | bam | 3.9 GB | ||
EGAF00000238412 | bam | 4.8 GB | ||
EGAF00000238413 | bam | 4.1 GB | ||
EGAF00000238414 | bam | 4.8 GB | ||
EGAF00000238415 | bam | 3.3 GB | ||
EGAF00000238416 | bam | 3.6 GB | ||
EGAF00000238417 | bam | 3.6 GB | ||
EGAF00000238418 | bam | 3.8 GB | ||
EGAF00000238419 | bam | 3.4 GB | ||
EGAF00000238420 | bam | 3.6 GB | ||
EGAF00000238421 | bam | 3.5 GB | ||
EGAF00000238422 | bam | 4.1 GB | ||
EGAF00000238423 | bam | 4.0 GB | ||
EGAF00000238424 | bam | 4.0 GB | ||
EGAF00000238425 | bam | 3.4 GB | ||
EGAF00000238426 | bam | 3.8 GB | ||
EGAF00000238427 | bam | 3.7 GB | ||
EGAF00000238428 | bam | 3.3 GB | ||
EGAF00000238429 | bam | 3.3 GB | ||
EGAF00000238430 | bam | 3.9 GB | ||
EGAF00000238431 | bam | 3.3 GB | ||
EGAF00000238432 | bam | 3.7 GB | ||
EGAF00000238433 | bam | 3.4 GB | ||
EGAF00000238434 | bam | 3.6 GB | ||
EGAF00000238435 | bam | 3.9 GB | ||
EGAF00000238436 | bam | 3.3 GB | ||
EGAF00000238437 | bam | 3.4 GB | ||
EGAF00000238438 | bam | 4.0 GB | ||
EGAF00000238439 | bam | 3.5 GB | ||
EGAF00000238440 | bam | 3.7 GB | ||
EGAF00000238441 | bam | 3.8 GB | ||
EGAF00000238442 | bam | 3.6 GB | ||
EGAF00000238443 | bam | 3.6 GB | ||
EGAF00000238444 | bam | 3.9 GB | ||
EGAF00000238445 | bam | 4.0 GB | ||
EGAF00000238446 | bam | 3.8 GB | ||
EGAF00000238447 | bam | 4.4 GB | ||
EGAF00000238448 | bam | 4.5 GB | ||
EGAF00000238449 | bam | 4.6 GB | ||
EGAF00000238450 | bam | 4.4 GB | ||
EGAF00000238451 | bam | 4.6 GB | ||
EGAF00000238452 | bam | 4.1 GB | ||
EGAF00000238453 | bam | 4.2 GB | ||
EGAF00000238454 | bam | 4.1 GB | ||
EGAF00000238455 | bam | 4.0 GB | ||
EGAF00000238456 | bam | 3.9 GB | ||
EGAF00000238457 | bam | 4.3 GB | ||
EGAF00000238458 | bam | 4.1 GB | ||
EGAF00000238459 | bam | 4.6 GB | ||
EGAF00000238460 | bam | 3.8 GB | ||
EGAF00000238461 | bam | 4.0 GB | ||
EGAF00000238462 | bam | 4.1 GB | ||
EGAF00000238463 | bam | 4.1 GB | ||
EGAF00000238464 | bam | 3.9 GB | ||
EGAF00000238465 | bam | 4.1 GB | ||
EGAF00000238466 | bam | 4.1 GB | ||
EGAF00000238467 | bam | 4.0 GB | ||
EGAF00000238468 | bam | 3.8 GB | ||
EGAF00000238469 | bam | 4.2 GB | ||
EGAF00000238470 | bam | 4.0 GB | ||
EGAF00000238471 | bam | 3.7 GB | ||
EGAF00000238472 | bam | 3.5 GB | ||
EGAF00000238473 | bam | 4.3 GB | ||
EGAF00000238474 | bam | 4.2 GB | ||
EGAF00000238475 | bam | 4.1 GB | ||
EGAF00000238476 | bam | 4.0 GB | ||
EGAF00000238477 | bam | 4.0 GB | ||
EGAF00000238478 | bam | 4.0 GB | ||
EGAF00000238479 | bam | 4.1 GB | ||
EGAF00000238480 | bam | 3.8 GB | ||
EGAF00000238481 | bam | 3.7 GB | ||
EGAF00000238482 | bam | 4.4 GB | ||
EGAF00000238483 | bam | 4.1 GB | ||
EGAF00000238484 | bam | 4.6 GB | ||
EGAF00000238485 | bam | 4.1 GB | ||
EGAF00000238486 | bam | 4.1 GB | ||
EGAF00000238487 | bam | 4.3 GB | ||
EGAF00000238488 | bam | 4.0 GB | ||
EGAF00000238489 | bam | 4.1 GB | ||
EGAF00000238490 | bam | 4.2 GB | ||
EGAF00000238491 | bam | 3.8 GB | ||
EGAF00000238492 | bam | 4.5 GB | ||
EGAF00000238493 | bam | 4.2 GB | ||
EGAF00000238494 | bam | 4.3 GB | ||
EGAF00000238495 | bam | 4.1 GB | ||
EGAF00000238496 | bam | 4.3 GB | ||
EGAF00000238497 | bam | 4.1 GB | ||
EGAF00000238498 | bam | 4.2 GB | ||
EGAF00000238499 | bam | 4.6 GB | ||
EGAF00000238500 | bam | 4.5 GB | ||
EGAF00000238501 | bam | 3.6 GB | ||
EGAF00000238502 | bam | 4.1 GB | ||
EGAF00000238503 | bam | 4.3 GB | ||
EGAF00000238504 | bam | 3.8 GB | ||
EGAF00000238505 | bam | 4.2 GB | ||
EGAF00000238506 | bam | 3.7 GB | ||
EGAF00000238507 | bam | 4.6 GB | ||
EGAF00000238508 | bam | 4.5 GB | ||
EGAF00000238509 | bam | 5.4 GB | ||
EGAF00000238510 | bam | 3.6 GB | ||
EGAF00000238511 | bam | 4.0 GB | ||
EGAF00000238512 | bam | 4.0 GB | ||
EGAF00000238513 | bam | 4.2 GB | ||
EGAF00000238514 | bam | 3.8 GB | ||
EGAF00000238515 | bam | 4.0 GB | ||
EGAF00000238516 | bam | 3.8 GB | ||
EGAF00000238517 | bam | 4.5 GB | ||
EGAF00000238518 | bam | 4.3 GB | ||
EGAF00000238519 | bam | 4.3 GB | ||
EGAF00000238520 | bam | 3.7 GB | ||
EGAF00000238521 | bam | 4.1 GB | ||
EGAF00000238522 | bam | 4.1 GB | ||
EGAF00000238523 | bam | 3.7 GB | ||
EGAF00000238524 | bam | 4.1 GB | ||
EGAF00000238525 | bam | 4.8 GB | ||
EGAF00000238526 | bam | 4.1 GB | ||
EGAF00000238527 | bam | 4.6 GB | ||
EGAF00000238528 | bam | 4.1 GB | ||
EGAF00000238529 | bam | 4.4 GB | ||
EGAF00000238530 | bam | 4.8 GB | ||
EGAF00000238531 | bam | 4.1 GB | ||
EGAF00000238532 | bam | 4.3 GB | ||
EGAF00000238533 | bam | 5.0 GB | ||
EGAF00000238534 | bam | 4.4 GB | ||
EGAF00000238535 | bam | 4.6 GB | ||
EGAF00000238536 | bam | 4.7 GB | ||
EGAF00000238537 | bam | 4.5 GB | ||
EGAF00000238538 | bam | 4.5 GB | ||
EGAF00000238539 | bam | 4.9 GB | ||
EGAF00000238540 | bam | 4.3 GB | ||
EGAF00000238541 | bam | 4.2 GB | ||
EGAF00000238542 | bam | 4.9 GB | ||
EGAF00000238543 | bam | 5.0 GB | ||
EGAF00000238544 | bam | 5.1 GB | ||
EGAF00000238545 | bam | 4.9 GB | ||
EGAF00000238546 | bam | 5.0 GB | ||
EGAF00000256424 | bam | 3.8 GB | ||
EGAF00000256425 | bam | 3.4 GB | ||
EGAF00000256426 | bam | 3.8 GB | ||
EGAF00000256427 | bam | 3.5 GB | ||
EGAF00000256428 | bam | 9.3 GB | ||
EGAF00000256429 | bam | 3.8 GB | ||
EGAF00000256430 | bam | 3.3 GB | ||
EGAF00000256431 | bam | 3.5 GB | ||
EGAF00000256432 | bam | 3.9 GB | ||
EGAF00000256433 | bam | 3.6 GB | ||
EGAF00000256434 | bam | 3.5 GB | ||
EGAF00000256435 | bam | 4.1 GB | ||
EGAF00000256436 | bam | 3.3 GB | ||
EGAF00000256437 | bam | 3.5 GB | ||
EGAF00000256438 | bam | 3.2 GB | ||
EGAF00000256439 | bam | 7.9 GB | ||
EGAF00000256440 | bam | 3.0 GB | ||
EGAF00000256441 | bam | 2.7 GB | ||
EGAF00000256442 | bam | 3.0 GB | ||
EGAF00000256443 | bam | 2.8 GB | ||
EGAF00000256444 | bam | 7.3 GB | ||
EGAF00000256445 | bam | 3.0 GB | ||
EGAF00000256446 | bam | 2.6 GB | ||
EGAF00000256447 | bam | 2.8 GB | ||
EGAF00000256448 | bam | 3.7 GB | ||
EGAF00000256449 | bam | 3.4 GB | ||
EGAF00000256450 | bam | 3.3 GB | ||
EGAF00000256451 | bam | 3.9 GB | ||
EGAF00000256452 | bam | 3.1 GB | ||
EGAF00000256453 | bam | 3.3 GB | ||
EGAF00000256454 | bam | 3.0 GB | ||
EGAF00000256455 | bam | 7.4 GB | ||
EGAF00000360952 | cram | 2.2 GB | ||
EGAF00000360953 | cram | 2.2 GB | ||
EGAF00000360954 | cram | 2.8 GB | ||
EGAF00000360955 | cram | 2.2 GB | ||
EGAF00000360956 | cram | 2.4 GB | ||
EGAF00000360957 | cram | 2.1 GB | ||
EGAF00000360958 | cram | 1.8 GB | ||
EGAF00000360959 | cram | 3.8 GB | ||
EGAF00000360960 | cram | 4.1 GB | ||
EGAF00000360961 | cram | 3.7 GB | ||
EGAF00000360962 | cram | 3.2 GB | ||
EGAF00000360963 | cram | 3.8 GB | ||
EGAF00000360964 | cram | 2.8 GB | ||
EGAF00000360965 | cram | 2.7 GB | ||
EGAF00000363542 | cram | 2.9 GB | ||
EGAF00000363543 | cram | 3.0 GB | ||
EGAF00000363544 | cram | 3.7 GB | ||
EGAF00000363545 | cram | 2.9 GB | ||
EGAF00000363546 | cram | 3.2 GB | ||
EGAF00000363547 | cram | 2.8 GB | ||
EGAF00000363548 | cram | 2.4 GB | ||
EGAF00000363549 | cram | 3.7 GB | ||
EGAF00000363550 | cram | 4.0 GB | ||
EGAF00000363551 | cram | 3.7 GB | ||
EGAF00000363552 | cram | 3.2 GB | ||
EGAF00000363553 | cram | 3.7 GB | ||
EGAF00000363554 | cram | 2.7 GB | ||
EGAF00000363555 | cram | 2.6 GB | ||
250 Files (973.5 GB) |