Genetics of Microcephalic Osteodysplatics Primordial Dwarfism
This project aims to find causal variants in 50 patients diagnosed with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD), of presumed recessive inheritance performing whole exome sequencing to ~50x mean depth.This is a collaboration with Prof A. Jackson, MRC Human Genetics Unit, Edinburgh
- 27/05/2015
- 66 samples
- DAC: EGAC00001000205
- Technologies: Illumina Genome Analyzer II, 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 |
|---|---|---|
| EGAS00001000064 | 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 | |
|---|---|---|---|---|
| EGAF00000079013 | bam | 13.5 GB | ||
| EGAF00000079014 | bam | 13.1 GB | ||
| EGAF00000079015 | bam | 12.3 GB | ||
| EGAF00000079016 | bam | 13.1 GB | ||
| EGAF00000079017 | bam | 11.9 GB | ||
| EGAF00000079018 | bam | 11.8 GB | ||
| EGAF00000079019 | bam | 12.1 GB | ||
| EGAF00000079020 | bam | 13.2 GB | ||
| EGAF00000079021 | bam | 14.0 GB | ||
| EGAF00000079022 | bam | 13.5 GB | ||
| EGAF00000079023 | bam | 14.1 GB | ||
| EGAF00000079024 | bam | 14.0 GB | ||
| EGAF00000079025 | bam | 11.7 GB | ||
| EGAF00000079026 | bam | 12.7 GB | ||
| EGAF00000079027 | bam | 11.1 GB | ||
| EGAF00000079028 | bam | 12.7 GB | ||
| EGAF00000079029 | bam | 12.9 GB | ||
| EGAF00000079030 | bam | 13.0 GB | ||
| EGAF00000079031 | bam | 10.1 GB | ||
| EGAF00000079032 | bam | 9.4 GB | ||
| EGAF00000079033 | bam | 11.0 GB | ||
| EGAF00000079034 | bam | 11.6 GB | ||
| EGAF00000079035 | bam | 11.1 GB | ||
| EGAF00000079036 | bam | 11.6 GB | ||
| EGAF00000079037 | bam | 11.8 GB | ||
| EGAF00000079038 | bam | 12.7 GB | ||
| EGAF00000079039 | bam | 10.4 GB | ||
| EGAF00000079040 | bam | 10.6 GB | ||
| EGAF00000079042 | bam | 9.7 GB | ||
| EGAF00000079350 | bam | 12.7 GB | ||
| EGAF00000079351 | bam | 12.3 GB | ||
| EGAF00000081184 | bam | 9.2 GB | ||
| EGAF00000081185 | bam | 9.4 GB | ||
| EGAF00000081432 | bam | 2.8 GB | ||
| EGAF00000081433 | bam | 2.9 GB | ||
| EGAF00000081434 | bam | 2.8 GB | ||
| EGAF00000081435 | bam | 3.0 GB | ||
| EGAF00000081436 | bam | 2.9 GB | ||
| EGAF00000081437 | bam | 2.8 GB | ||
| EGAF00000081438 | bam | 3.2 GB | ||
| EGAF00000081439 | bam | 2.4 GB | ||
| EGAF00000081440 | bam | 2.5 GB | ||
| EGAF00000081441 | bam | 2.8 GB | ||
| EGAF00000081442 | bam | 2.5 GB | ||
| EGAF00000081443 | bam | 2.6 GB | ||
| EGAF00000081444 | bam | 3.1 GB | ||
| EGAF00000081445 | bam | 1.8 GB | ||
| EGAF00000081446 | bam | 2.3 GB | ||
| EGAF00000081447 | bam | 2.3 GB | ||
| EGAF00000081448 | bam | 1.9 GB | ||
| EGAF00000081449 | bam | 1.8 GB | ||
| EGAF00000081450 | bam | 1.8 GB | ||
| EGAF00000081451 | bam | 1.8 GB | ||
| EGAF00000081452 | bam | 1.8 GB | ||
| EGAF00000081453 | bam | 1.8 GB | ||
| EGAF00000081454 | bam | 591.1 MB | ||
| EGAF00000081455 | bam | 2.2 GB | ||
| EGAF00000081456 | bam | 2.4 GB | ||
| EGAF00000081457 | bam | 2.3 GB | ||
| EGAF00000081458 | bam | 2.2 GB | ||
| EGAF00000081459 | bam | 2.2 GB | ||
| EGAF00000081460 | bam | 2.2 GB | ||
| EGAF00000081461 | bam | 2.7 GB | ||
| EGAF00000081462 | bam | 2.8 GB | ||
| EGAF00000081463 | bam | 3.3 GB | ||
| EGAF00000081464 | bam | 3.2 GB | ||
| EGAF00000081465 | bam | 3.8 GB | ||
| EGAF00000081466 | bam | 3.9 GB | ||
| EGAF00000081467 | bam | 3.8 GB | ||
| EGAF00000081468 | bam | 3.8 GB | ||
| EGAF00000081469 | bam | 3.9 GB | ||
| EGAF00000081470 | bam | 3.8 GB | ||
| EGAF00000081471 | bam | 3.9 GB | ||
| EGAF00000081472 | bam | 3.8 GB | ||
| EGAF00000081473 | bam | 4.4 GB | ||
| EGAF00000081474 | bam | 4.3 GB | ||
| EGAF00000081475 | bam | 4.1 GB | ||
| EGAF00000081476 | bam | 4.8 GB | ||
| EGAF00000081477 | bam | 4.8 GB | ||
| EGAF00000081478 | bam | 4.4 GB | ||
| EGAF00000081479 | bam | 4.3 GB | ||
| EGAF00000081480 | bam | 4.1 GB | ||
| EGAF00000081481 | bam | 4.1 GB | ||
| EGAF00000081482 | bam | 7.7 GB | ||
| EGAF00000081483 | bam | 9.1 GB | ||
| EGAF00000081484 | bam | 9.0 GB | ||
| EGAF00000081485 | bam | 3.8 GB | ||
| EGAF00000081486 | bam | 4.3 GB | ||
| EGAF00000081487 | bam | 4.1 GB | ||
| EGAF00000081488 | bam | 4.3 GB | ||
| EGAF00000081489 | bam | 4.6 GB | ||
| EGAF00000081490 | bam | 4.9 GB | ||
| EGAF00000081491 | bam | 4.9 GB | ||
| EGAF00000081492 | bam | 4.1 GB | ||
| EGAF00000081493 | bam | 4.6 GB | ||
| EGAF00000081494 | bam | 4.4 GB | ||
| EGAF00000081495 | bam | 4.7 GB | ||
| EGAF00000081496 | bam | 5.0 GB | ||
| EGAF00000081497 | bam | 3.9 GB | ||
| EGAF00000081498 | bam | 4.4 GB | ||
| EGAF00000081499 | bam | 4.2 GB | ||
| EGAF00000081500 | bam | 4.5 GB | ||
| EGAF00000081501 | bam | 4.7 GB | ||
| EGAF00000081502 | bam | 5.0 GB | ||
| EGAF00000081503 | bam | 4.9 GB | ||
| EGAF00000081504 | bam | 4.0 GB | ||
| EGAF00000081505 | bam | 4.5 GB | ||
| EGAF00000081506 | bam | 4.3 GB | ||
| EGAF00000081507 | bam | 4.6 GB | ||
| EGAF00000081508 | bam | 4.9 GB | ||
| EGAF00000082213 | bam | 11.5 GB | ||
| EGAF00000082214 | bam | 11.4 GB | ||
| EGAF00000082215 | bam | 12.4 GB | ||
| 113 Files (712.8 GB) | ||||