Study
Whole Genome Sequencing of JK Family
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001001323 | Whole Genome Sequencing |
Study Description
In collaboration with Dr David Savage, we have identified a patient with a very unusualphenotype, lacking almost all visceral fat, but showing a massive accumulation of white fattissue behind her neck and significantly elevated liver fat.Whole exome sequencing of the proband and her unaffected parents and brother has beenrun previously, however no causative variant has been found and the sequencing coveragewas generally poor. We propose to conduct whole genome sequencing of all 4 familymembers at a depth of 30X.
Study Datasets 1 dataset.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001002227 |
In collaboration with Dr David Savage, we have identified a patient with a very unusual
phenotype, lacking almost all visceral fat, but showing a massive accumulation of white fat
tissue behind her neck and significantly elevated liver fat.
Whole exome sequencing of the proband and her unaffected parents and brother has been
run previously, however no causative variant has been found and the sequencing coverage
was generally poor. We propose to conduct whole genome sequencing of all 4 ... (Show More)
|
HiSeq X Ten | 3 |
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