Whole Genome Sequencing of JK Family

Dataset ID Technology Samples
EGAD00001002227 HiSeq X Ten 3

Dataset Description

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 family
members at a depth of 30X.

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

Wellcome Trust Sanger Institute
Contact person: Data Sharing
Email: datasharing [at] sanger [dot] ac [dot] uk
Access information:
More details: EGAC00001000205


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