|EGAD00001002227||HiSeq X Ten||3|
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.
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Wellcome Trust Sanger Institute
Contact person: Data Sharing
Email: datasharing [at] sanger [dot] ac [dot] uk
Access information: https://www.sanger.ac.uk/legal/DAA/MasterController
More details: EGAC00001000205